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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: 7-50740336-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=50740336&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 50740336,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000401949.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.-46-7968A>T",
"hgvs_p": null,
"transcript": "NM_001350814.2",
"protein_id": "NP_001337743.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": -4,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5468,
"mane_select": "ENST00000401949.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.-46-7968A>T",
"hgvs_p": null,
"transcript": "ENST00000401949.6",
"protein_id": "ENSP00000385770.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": -4,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5468,
"mane_select": "NM_001350814.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.-124+15551A>T",
"hgvs_p": null,
"transcript": "ENST00000335866.7",
"protein_id": "ENSP00000338543.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": -4,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.-308+15551A>T",
"hgvs_p": null,
"transcript": "ENST00000407526.6",
"protein_id": "ENSP00000385046.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": -4,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.286+15551A>T",
"hgvs_p": null,
"transcript": "NM_001371009.1",
"protein_id": "NP_001357938.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 643,
"cds_start": -4,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.253+15551A>T",
"hgvs_p": null,
"transcript": "NM_001350815.2",
"protein_id": "NP_001337744.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": -4,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.253+15551A>T",
"hgvs_p": null,
"transcript": "ENST00000644879.1",
"protein_id": "ENSP00000493728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": -4,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
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"cdna_length": 3888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.-124+15551A>T",
"hgvs_p": null,
"transcript": "NM_001001555.3",
"protein_id": "NP_001001555.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": -4,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.-240+15551A>T",
"hgvs_p": null,
"transcript": "NM_001350816.3",
"protein_id": "NP_001337745.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 5336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 1,
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"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.-132-7968A>T",
"hgvs_p": null,
"transcript": "NM_001371008.1",
"protein_id": "NP_001357937.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "GRB10",
"gene_hgnc_id": 4564,
"hgvs_c": "c.-123-36428A>T",
"hgvs_p": null,
"transcript": "ENST00000402497.6",
"protein_id": "ENSP00000385748.1",
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},
{
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],
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"gene_symbol": "GRB10",
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},
{
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],
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"gene_symbol": "GRB10",
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},
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],
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"gene_symbol": "GRB10",
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},
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],
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"transcript": "ENST00000439044.7",
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},
{
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],
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"gene_symbol": "GRB10",
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"hgvs_c": "n.86+7243A>T",
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},
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"gene_symbol": "GRB10",
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"hgvs_c": "n.261-12446A>T",
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},
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],
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"hgvs_c": "n.253+15551A>T",
"hgvs_p": null,
"transcript": "ENST00000644769.1",
"protein_id": "ENSP00000495397.1",
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"intron_rank": 3,
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"gene_symbol": "GRB10",
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"hgvs_c": "c.352+15551A>T",
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],
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"gene_symbol": "GRB10",
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"hgvs_c": "c.352+15551A>T",
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"transcript": "XM_017012031.3",
"protein_id": "XP_016867520.1",
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},
{
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],
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"exon_count": 18,
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"gene_symbol": "GRB10",
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"hgvs_c": "c.-46-7968A>T",
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