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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: 16-8813090-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=8813090&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 8813090,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000303.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.623G>T",
"hgvs_p": "p.Gly208Val",
"transcript": "NM_000303.3",
"protein_id": "NP_000294.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 246,
"cds_start": 623,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000268261.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000303.3"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.623G>T",
"hgvs_p": "p.Gly208Val",
"transcript": "ENST00000268261.9",
"protein_id": "ENSP00000268261.4",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 246,
"cds_start": 623,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000303.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268261.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "n.*241G>T",
"hgvs_p": null,
"transcript": "ENST00000565221.5",
"protein_id": "ENSP00000457932.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000565221.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "n.*245G>T",
"hgvs_p": null,
"transcript": "ENST00000566540.5",
"protein_id": "ENSP00000454284.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566540.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "n.3791G>T",
"hgvs_p": null,
"transcript": "ENST00000567697.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000567697.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "n.*241G>T",
"hgvs_p": null,
"transcript": "ENST00000565221.5",
"protein_id": "ENSP00000457932.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000565221.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "n.*245G>T",
"hgvs_p": null,
"transcript": "ENST00000566540.5",
"protein_id": "ENSP00000454284.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566540.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.665G>T",
"hgvs_p": "p.Gly222Val",
"transcript": "ENST00000966170.1",
"protein_id": "ENSP00000636229.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 260,
"cds_start": 665,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966170.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Gly207Val",
"transcript": "ENST00000932322.1",
"protein_id": "ENSP00000602381.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 245,
"cds_start": 620,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932322.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.593G>T",
"hgvs_p": "p.Gly198Val",
"transcript": "ENST00000932323.1",
"protein_id": "ENSP00000602382.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 236,
"cds_start": 593,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932323.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.578G>T",
"hgvs_p": "p.Gly193Val",
"transcript": "ENST00000859787.1",
"protein_id": "ENSP00000529846.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 231,
"cds_start": 578,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859787.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.623G>T",
"hgvs_p": "p.Gly208Val",
"transcript": "ENST00000682008.1",
"protein_id": "ENSP00000507849.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 228,
"cds_start": 623,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682008.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.569G>T",
"hgvs_p": "p.Gly190Val",
"transcript": "ENST00000932321.1",
"protein_id": "ENSP00000602380.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 228,
"cds_start": 569,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932321.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.554G>T",
"hgvs_p": "p.Gly185Val",
"transcript": "ENST00000859785.1",
"protein_id": "ENSP00000529844.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 223,
"cds_start": 554,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859785.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.542G>T",
"hgvs_p": "p.Gly181Val",
"transcript": "ENST00000566983.5",
"protein_id": "ENSP00000457956.1",
"transcript_support_level": 5,
"aa_start": 181,
"aa_end": null,
"aa_length": 219,
"cds_start": 542,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566983.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.431G>T",
"hgvs_p": "p.Gly144Val",
"transcript": "ENST00000859788.1",
"protein_id": "ENSP00000529847.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 182,
"cds_start": 431,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859788.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.350G>T",
"hgvs_p": "p.Gly117Val",
"transcript": "ENST00000569958.5",
"protein_id": "ENSP00000456302.1",
"transcript_support_level": 2,
"aa_start": 117,
"aa_end": null,
"aa_length": 155,
"cds_start": 350,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569958.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Gly93Val",
"transcript": "ENST00000859786.1",
"protein_id": "ENSP00000529845.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 131,
"cds_start": 278,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859786.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.374G>T",
"hgvs_p": "p.Gly125Val",
"transcript": "XM_047434215.1",
"protein_id": "XP_047290171.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 163,
"cds_start": 374,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434215.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "n.*345G>T",
"hgvs_p": null,
"transcript": "ENST00000562318.5",
"protein_id": "ENSP00000454395.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000562318.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "n.*163G>T",
"hgvs_p": null,
"transcript": "ENST00000566604.5",
"protein_id": "ENSP00000456774.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566604.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "n.*81G>T",
"hgvs_p": null,
"transcript": "ENST00000570076.5",
"protein_id": "ENSP00000456961.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000570076.5"
},
{
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}
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}