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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: 14-89966159-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=89966159&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 89966159,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000335725.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Pro191Arg",
"transcript": "NM_018319.4",
"protein_id": "NP_060789.2",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 608,
"cds_start": 572,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": "ENST00000335725.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Pro191Arg",
"transcript": "ENST00000335725.9",
"protein_id": "ENSP00000337353.4",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 608,
"cds_start": 572,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": "NM_018319.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Pro191Arg",
"transcript": "ENST00000393454.6",
"protein_id": "ENSP00000377099.2",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 608,
"cds_start": 572,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Pro191Arg",
"transcript": "ENST00000393452.7",
"protein_id": "ENSP00000377098.3",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 589,
"cds_start": 572,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 871,
"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": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "n.572C>G",
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Pro191Arg",
"transcript": "NM_001008744.2",
"protein_id": "NP_001008744.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 608,
"cds_start": 572,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Pro191Arg",
"transcript": "NM_001330205.2",
"protein_id": "NP_001317134.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 578,
"cds_start": 572,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 3698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Pro191Arg",
"transcript": "ENST00000555880.5",
"protein_id": "ENSP00000450628.1",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 578,
"cds_start": 572,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Pro191Arg",
"transcript": "ENST00000554180.5",
"protein_id": "ENSP00000450872.1",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 278,
"cds_start": 572,
"cds_end": null,
"cds_length": 839,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.275C>G",
"hgvs_p": "p.Pro92Arg",
"transcript": "ENST00000553617.5",
"protein_id": "ENSP00000450708.1",
"transcript_support_level": 5,
"aa_start": 92,
"aa_end": null,
"aa_length": 218,
"cds_start": 275,
"cds_end": null,
"cds_length": 659,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Pro191Arg",
"transcript": "XM_005267848.4",
"protein_id": "XP_005267905.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 608,
"cds_start": 572,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Pro191Arg",
"transcript": "XM_006720197.5",
"protein_id": "XP_006720260.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 608,
"cds_start": 572,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Pro191Arg",
"transcript": "XM_011536942.4",
"protein_id": "XP_011535244.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 608,
"cds_start": 572,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1289,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Pro191Arg",
"transcript": "XM_047431568.1",
"protein_id": "XP_047287524.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 608,
"cds_start": 572,
"cds_end": null,
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"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 4329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Pro191Arg",
"transcript": "XM_047431569.1",
"protein_id": "XP_047287525.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 608,
"cds_start": 572,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 4213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Pro191Arg",
"transcript": "XM_047431570.1",
"protein_id": "XP_047287526.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 608,
"cds_start": 572,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 4388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Pro191Arg",
"transcript": "XM_047431572.1",
"protein_id": "XP_047287528.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 608,
"cds_start": 572,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 3811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Pro191Arg",
"transcript": "XM_047431573.1",
"protein_id": "XP_047287529.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 608,
"cds_start": 572,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 3914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Pro191Arg",
"transcript": "XM_047431574.1",
"protein_id": "XP_047287530.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 608,
"cds_start": 572,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 2204,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Pro191Arg",
"transcript": "XM_047431575.1",
"protein_id": "XP_047287531.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 608,
"cds_start": 572,
"cds_end": null,
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"cdna_start": 807,
"cdna_end": null,
"cdna_length": 3683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Pro191Arg",
"transcript": "XM_017021440.3",
"protein_id": "XP_016876929.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 578,
"cds_start": 572,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 3390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Pro191Arg",
"transcript": "XM_047431576.1",
"protein_id": "XP_047287532.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 578,
"cds_start": 572,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 4220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Pro191Arg",
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}