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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: 2-197194756-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=197194756&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 197194756,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000282272.15",
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.28-7650T>C",
"hgvs_p": null,
"transcript": "NM_001195144.2",
"protein_id": "NP_001182073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 993,
"cds_start": -4,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6087,
"mane_select": "ENST00000282272.15",
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.28-7650T>C",
"hgvs_p": null,
"transcript": "ENST00000282272.15",
"protein_id": "ENSP00000282272.9",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 993,
"cds_start": -4,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6087,
"mane_select": "NM_001195144.2",
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.28-7650T>C",
"hgvs_p": null,
"transcript": "ENST00000409919.5",
"protein_id": "ENSP00000387233.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 367,
"cds_start": -4,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1622,
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.28-7650T>C",
"hgvs_p": null,
"transcript": "NM_001367495.1",
"protein_id": "NP_001354424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": -4,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7419,
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.28-7650T>C",
"hgvs_p": null,
"transcript": "NM_001367497.1",
"protein_id": "NP_001354426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1056,
"cds_start": -4,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7365,
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.28-7650T>C",
"hgvs_p": null,
"transcript": "ENST00000647377.1",
"protein_id": "ENSP00000496628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1056,
"cds_start": -4,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7218,
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.28-7650T>C",
"hgvs_p": null,
"transcript": "NM_001367496.1",
"protein_id": "NP_001354425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 991,
"cds_start": -4,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4761,
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.-49+3254T>C",
"hgvs_p": null,
"transcript": "ENST00000328737.6",
"protein_id": "ENSP00000331516.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 919,
"cds_start": -4,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3686,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.28-7650T>C",
"hgvs_p": null,
"transcript": "ENST00000409153.5",
"protein_id": "ENSP00000387141.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 579,
"cds_start": -4,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.28-7650T>C",
"hgvs_p": null,
"transcript": "NM_153697.3",
"protein_id": "NP_710181.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 367,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "ANKRD44",
"gene_hgnc_id": 25259,
"hgvs_c": "c.-48-7650T>C",
"hgvs_p": null,
"transcript": "ENST00000443014.1",
"protein_id": "ENSP00000399895.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 75,
"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
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"transcript": "ENST00000447713.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "ANKRD44",
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},
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],
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"gene_symbol": "ANKRD44",
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},
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],
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},
{
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],
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"intron_rank": 2,
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"gene_symbol": "ANKRD44",
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},
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],
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"gene_symbol": "ANKRD44",
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"hgvs_c": "c.28-7650T>C",
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"transcript": "XM_047446284.1",
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],
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"hgvs_c": "c.28-7650T>C",
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},
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],
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"protein_id": "XP_005247005.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "ANKRD44",
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}
],
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}