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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-48469755-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48469755&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 48469755,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016479.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.403C>A",
"hgvs_p": "p.Leu135Ile",
"transcript": "NM_016479.6",
"protein_id": "NP_057563.3",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 240,
"cds_start": 403,
"cds_end": null,
"cds_length": 723,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 2034,
"mane_select": "ENST00000296444.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016479.6"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.403C>A",
"hgvs_p": "p.Leu135Ile",
"transcript": "ENST00000296444.7",
"protein_id": "ENSP00000296444.2",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 240,
"cds_start": 403,
"cds_end": null,
"cds_length": 723,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 2034,
"mane_select": "NM_016479.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296444.7"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.94C>A",
"hgvs_p": "p.Leu32Ile",
"transcript": "ENST00000426002.5",
"protein_id": "ENSP00000390388.1",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 137,
"cds_start": 94,
"cds_end": null,
"cds_length": 414,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426002.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "n.207C>A",
"hgvs_p": null,
"transcript": "ENST00000460758.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1297,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000460758.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "n.183C>A",
"hgvs_p": null,
"transcript": "ENST00000494854.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494854.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.403C>A",
"hgvs_p": "p.Leu135Ile",
"transcript": "ENST00000949300.1",
"protein_id": "ENSP00000619359.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 242,
"cds_start": 403,
"cds_end": null,
"cds_length": 729,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949300.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.403C>A",
"hgvs_p": "p.Leu135Ile",
"transcript": "ENST00000929322.1",
"protein_id": "ENSP00000599381.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 239,
"cds_start": 403,
"cds_end": null,
"cds_length": 720,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 2045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929322.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.403C>A",
"hgvs_p": "p.Leu135Ile",
"transcript": "ENST00000949298.1",
"protein_id": "ENSP00000619357.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 239,
"cds_start": 403,
"cds_end": null,
"cds_length": 720,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949298.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Leu128Ile",
"transcript": "NM_001272065.3",
"protein_id": "NP_001258994.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 233,
"cds_start": 382,
"cds_end": null,
"cds_length": 702,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272065.3"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Leu128Ile",
"transcript": "ENST00000443308.6",
"protein_id": "ENSP00000395373.2",
"transcript_support_level": 2,
"aa_start": 128,
"aa_end": null,
"aa_length": 233,
"cds_start": 382,
"cds_end": null,
"cds_length": 702,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443308.6"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Leu128Ile",
"transcript": "ENST00000949299.1",
"protein_id": "ENSP00000619358.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 232,
"cds_start": 382,
"cds_end": null,
"cds_length": 699,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949299.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.310C>A",
"hgvs_p": "p.Leu104Ile",
"transcript": "NM_001272066.2",
"protein_id": "NP_001258995.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 209,
"cds_start": 310,
"cds_end": null,
"cds_length": 630,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272066.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.310C>A",
"hgvs_p": "p.Leu104Ile",
"transcript": "NM_001272067.2",
"protein_id": "NP_001258996.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 209,
"cds_start": 310,
"cds_end": null,
"cds_length": 630,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272067.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.310C>A",
"hgvs_p": "p.Leu104Ile",
"transcript": "NM_001272068.2",
"protein_id": "NP_001258997.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 209,
"cds_start": 310,
"cds_end": null,
"cds_length": 630,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272068.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.310C>A",
"hgvs_p": "p.Leu104Ile",
"transcript": "ENST00000442747.5",
"protein_id": "ENSP00000408223.1",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 209,
"cds_start": 310,
"cds_end": null,
"cds_length": 630,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442747.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.310C>A",
"hgvs_p": "p.Leu104Ile",
"transcript": "ENST00000444115.5",
"protein_id": "ENSP00000407957.1",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 209,
"cds_start": 310,
"cds_end": null,
"cds_length": 630,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444115.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.310C>A",
"hgvs_p": "p.Leu104Ile",
"transcript": "ENST00000619810.4",
"protein_id": "ENSP00000484992.1",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 209,
"cds_start": 310,
"cds_end": null,
"cds_length": 630,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619810.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.94C>A",
"hgvs_p": "p.Leu32Ile",
"transcript": "NM_001272082.4",
"protein_id": "NP_001259011.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 137,
"cds_start": 94,
"cds_end": null,
"cds_length": 414,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272082.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.94C>A",
"hgvs_p": "p.Leu32Ile",
"transcript": "NM_001272083.4",
"protein_id": "NP_001259012.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 118,
"cds_start": 94,
"cds_end": null,
"cds_length": 357,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272083.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "c.310C>A",
"hgvs_p": "p.Leu104Ile",
"transcript": "ENST00000417841.5",
"protein_id": "ENSP00000412509.1",
"transcript_support_level": 4,
"aa_start": 104,
"aa_end": null,
"aa_length": 111,
"cds_start": 310,
"cds_end": null,
"cds_length": 337,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417841.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "n.*614C>A",
"hgvs_p": null,
"transcript": "ENST00000417962.5",
"protein_id": "ENSP00000407330.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2306,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000417962.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"hgvs_c": "n.*303C>A",
"hgvs_p": null,
"transcript": "ENST00000424965.5",
"protein_id": "ENSP00000412811.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 884,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000424965.5"
},
{
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"protein_coding": false,
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{
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},
{
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"protein_coding": false,
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"consequences": [
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],
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"feature": "ENST00000486344.5"
},
{
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"strand": false,
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"non_coding_transcript_exon_variant"
],
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"feature": "ENST00000497863.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"transcript": "ENST00000417962.5",
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"biotype": "nonsense_mediated_decay",
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{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"transcript": "ENST00000424965.5",
"protein_id": "ENSP00000412811.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000424965.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "SHISA5",
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"hgvs_c": "n.*349C>A",
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"transcript": "ENST00000415268.1",
"protein_id": "ENSP00000400498.1",
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"cds_end": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000415268.1"
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],
"gene_symbol": "SHISA5",
"gene_hgnc_id": 30376,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2887204587459564,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.152,
"revel_prediction": "Benign",
"alphamissense_score": 0.2013,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.629,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016479.6",
"gene_symbol": "SHISA5",
"hgnc_id": 30376,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.403C>A",
"hgvs_p": "p.Leu135Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}