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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: 14-89995982-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=89995982&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 89995982,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000335725.9",
"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": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1541+2499A>C",
"hgvs_p": null,
"transcript": "NM_018319.4",
"protein_id": "NP_060789.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": -4,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": "ENST00000335725.9",
"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": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1541+2499A>C",
"hgvs_p": null,
"transcript": "ENST00000335725.9",
"protein_id": "ENSP00000337353.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": -4,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": "NM_018319.4",
"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": 13,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1541+2499A>C",
"hgvs_p": null,
"transcript": "ENST00000393454.6",
"protein_id": "ENSP00000377099.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": -4,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2068,
"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": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1541+2499A>C",
"hgvs_p": null,
"transcript": "ENST00000393452.7",
"protein_id": "ENSP00000377098.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": -4,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2370,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.461+2499A>C",
"hgvs_p": null,
"transcript": "ENST00000556063.1",
"protein_id": "ENSP00000450795.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": -4,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1076,
"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": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "n.*864+2499A>C",
"hgvs_p": null,
"transcript": "ENST00000545686.6",
"protein_id": "ENSP00000444587.2",
"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": 2488,
"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": 13,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1541+2499A>C",
"hgvs_p": null,
"transcript": "NM_001008744.2",
"protein_id": "NP_001008744.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3499,
"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": 13,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1541+2499A>C",
"hgvs_p": null,
"transcript": "NM_001330205.2",
"protein_id": "NP_001317134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 578,
"cds_start": -4,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3698,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1541+2499A>C",
"hgvs_p": null,
"transcript": "ENST00000555880.5",
"protein_id": "ENSP00000450628.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 578,
"cds_start": -4,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "n.*1100+2499A>C",
"hgvs_p": null,
"transcript": "ENST00000554976.5",
"protein_id": "ENSP00000452042.1",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 12,
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"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "n.*726+2499A>C",
"hgvs_p": null,
"transcript": "ENST00000555178.5",
"protein_id": "ENSP00000452363.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "TDP1",
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"hgvs_c": "c.1541+2499A>C",
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"transcript": "XM_005267848.4",
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},
{
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],
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"exon_count": 17,
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"gene_symbol": "TDP1",
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"hgvs_c": "c.1541+2499A>C",
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},
{
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"gene_symbol": "TDP1",
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"hgvs_c": "c.1541+2499A>C",
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},
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],
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},
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],
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"transcript": "XM_047431570.1",
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},
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],
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"gene_symbol": "TDP1",
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"hgvs_c": "c.1541+2499A>C",
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"transcript": "XM_047431572.1",
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],
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],
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"hgvs_c": "c.1541+2499A>C",
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},
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],
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"gene_symbol": "TDP1",
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"hgvs_c": "c.1541+2499A>C",
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}
],
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}