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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: 15-74452328-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=74452328&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 74452328,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001286741.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "NM_032907.5",
"protein_id": "NP_116296.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 380,
"cds_start": 355,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395081.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032907.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000395081.7",
"protein_id": "ENSP00000378518.2",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 380,
"cds_start": 355,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032907.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395081.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000564488.5",
"protein_id": "ENSP00000454828.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 380,
"cds_start": 355,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564488.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000565335.5",
"protein_id": "ENSP00000457708.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 380,
"cds_start": 355,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565335.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000567435.5",
"protein_id": "ENSP00000457703.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 380,
"cds_start": 355,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567435.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Ala159Thr",
"transcript": "NM_001286741.2",
"protein_id": "NP_001273670.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 420,
"cds_start": 475,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286741.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Ala159Thr",
"transcript": "NM_001286742.2",
"protein_id": "NP_001273671.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 420,
"cds_start": 475,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286742.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "ENST00000902164.1",
"protein_id": "ENSP00000572223.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 384,
"cds_start": 367,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902164.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "ENST00000940651.1",
"protein_id": "ENSP00000610710.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 384,
"cds_start": 367,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940651.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "ENST00000940660.1",
"protein_id": "ENSP00000610719.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 384,
"cds_start": 367,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940660.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"transcript": "ENST00000947580.1",
"protein_id": "ENSP00000617639.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 384,
"cds_start": 367,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947580.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "NM_001286739.2",
"protein_id": "NP_001273668.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 380,
"cds_start": 355,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286739.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "NM_001286740.1",
"protein_id": "NP_001273669.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 380,
"cds_start": 355,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286740.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "NM_201265.2",
"protein_id": "NP_957717.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 380,
"cds_start": 355,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201265.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000361351.8",
"protein_id": "ENSP00000354883.4",
"transcript_support_level": 5,
"aa_start": 119,
"aa_end": null,
"aa_length": 380,
"cds_start": 355,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361351.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000902158.1",
"protein_id": "ENSP00000572217.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 380,
"cds_start": 355,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902158.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000902159.1",
"protein_id": "ENSP00000572218.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 380,
"cds_start": 355,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902159.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000902161.1",
"protein_id": "ENSP00000572220.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 380,
"cds_start": 355,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902161.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000902165.1",
"protein_id": "ENSP00000572224.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 380,
"cds_start": 355,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902165.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000940643.1",
"protein_id": "ENSP00000610702.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 380,
"cds_start": 355,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940643.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000940647.1",
"protein_id": "ENSP00000610706.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 380,
"cds_start": 355,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940647.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Ala119Thr",
"transcript": "ENST00000940654.1",
"protein_id": "ENSP00000610713.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 380,
"cds_start": 355,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940654.1"
},
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{
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{
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},
{
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{
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{
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],
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"gene_symbol": "UBL7",
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"transcript": "ENST00000565130.5",
"protein_id": "ENSP00000457828.1",
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"biotype": "protein_coding",
"feature": "ENST00000565130.5"
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],
"gene_symbol": "UBL7",
"gene_hgnc_id": 28221,
"dbsnp": "rs1000045651",
"frequency_reference_population": 0.0000014201419,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000142014,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.389104425907135,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.118,
"revel_prediction": "Benign",
"alphamissense_score": 0.1453,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.018,
"phylop100way_prediction": "Uncertain_significance",
"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_001286741.2",
"gene_symbol": "UBL7",
"hgnc_id": 28221,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Ala159Thr"
}
],
"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
}