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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: 9-72193094-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=72193094&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 72193094,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000358399.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GDA",
"gene_hgnc_id": 4212,
"hgvs_c": "c.124-2406A>G",
"hgvs_p": null,
"transcript": "NM_004293.5",
"protein_id": "NP_004284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": -4,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5367,
"mane_select": "ENST00000358399.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GDA",
"gene_hgnc_id": 4212,
"hgvs_c": "c.124-2406A>G",
"hgvs_p": null,
"transcript": "ENST00000358399.8",
"protein_id": "ENSP00000351170.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": -4,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5367,
"mane_select": "NM_004293.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GDA",
"gene_hgnc_id": 4212,
"hgvs_c": "c.124-2406A>G",
"hgvs_p": null,
"transcript": "ENST00000238018.8",
"protein_id": "ENSP00000238018.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": -4,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GDA",
"gene_hgnc_id": 4212,
"hgvs_c": "n.124-2406A>G",
"hgvs_p": null,
"transcript": "ENST00000475764.5",
"protein_id": "ENSP00000436619.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GDA",
"gene_hgnc_id": 4212,
"hgvs_c": "c.124-2406A>G",
"hgvs_p": null,
"transcript": "NM_001242505.3",
"protein_id": "NP_001229434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": -4,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GDA",
"gene_hgnc_id": 4212,
"hgvs_c": "c.124-2406A>G",
"hgvs_p": null,
"transcript": "NM_001351572.2",
"protein_id": "NP_001338501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": -4,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GDA",
"gene_hgnc_id": 4212,
"hgvs_c": "c.124-2406A>G",
"hgvs_p": null,
"transcript": "NM_001351573.2",
"protein_id": "NP_001338502.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": -4,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GDA",
"gene_hgnc_id": 4212,
"hgvs_c": "c.2-2410A>G",
"hgvs_p": null,
"transcript": "NM_001351571.2",
"protein_id": "NP_001338500.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 412,
"cds_start": -4,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GDA",
"gene_hgnc_id": 4212,
"hgvs_c": "c.2-2410A>G",
"hgvs_p": null,
"transcript": "ENST00000376986.5",
"protein_id": "ENSP00000366185.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": -4,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GDA",
"gene_hgnc_id": 4212,
"hgvs_c": "c.-140-2406A>G",
"hgvs_p": null,
"transcript": "NM_001242506.3",
"protein_id": "NP_001229435.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": -4,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GDA",
"gene_hgnc_id": 4212,
"hgvs_c": "c.-99-2406A>G",
"hgvs_p": null,
"transcript": "NM_001242507.3",
"protein_id": "NP_001229436.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 380,
"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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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "GDA",
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"hgvs_c": "c.-99-2406A>G",
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"transcript": "ENST00000545168.5",
"protein_id": "ENSP00000437972.1",
"transcript_support_level": 2,
"aa_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 1,
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"gene_symbol": "GDA",
"gene_hgnc_id": 4212,
"hgvs_c": "n.244-2406A>G",
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"transcript": "NR_147240.2",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "GDA",
"gene_hgnc_id": 4212,
"hgvs_c": "c.124-2406A>G",
"hgvs_p": null,
"transcript": "XM_011519213.3",
"protein_id": "XP_011517515.1",
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},
{
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "GDA",
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"transcript": "XM_011519222.3",
"protein_id": "XP_011517524.1",
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"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 1,
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"gene_symbol": "GDA",
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"hgvs_c": "c.124-2406A>G",
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"transcript": "XM_011519215.3",
"protein_id": "XP_011517517.1",
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},
{
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],
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"gene_symbol": "GDA",
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"hgvs_c": "c.124-2406A>G",
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"transcript": "XM_011519216.3",
"protein_id": "XP_011517518.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 1,
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"gene_symbol": "GDA",
"gene_hgnc_id": 4212,
"hgvs_c": "c.124-2406A>G",
"hgvs_p": null,
"transcript": "XM_047424099.1",
"protein_id": "XP_047280055.1",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 1,
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"gene_symbol": "GDA",
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"hgvs_c": "c.124-2406A>G",
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"transcript": "XM_011519217.3",
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},
{
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"strand": true,
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],
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},
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],
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"gene_symbol": "GDA",
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},
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GDA",
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"hgvs_c": "c.4-2406A>G",
"hgvs_p": null,
"transcript": "XM_011519218.3",
"protein_id": "XP_011517520.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GDA",
"gene_hgnc_id": 4212,
"hgvs_c": "c.4-2406A>G",
"hgvs_p": null,
"transcript": "XM_047424102.1",
"protein_id": "XP_047280058.1",
"transcript_support_level": null,
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},
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