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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: 2-218736669-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218736669&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218736669,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_014640.5",
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTLL4",
"gene_hgnc_id": 28976,
"hgvs_c": "c.-98-910A>T",
"hgvs_p": null,
"transcript": "NM_014640.5",
"protein_id": "NP_055455.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1199,
"cds_start": null,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5007,
"mane_select": "ENST00000392102.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014640.5"
},
{
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTLL4",
"gene_hgnc_id": 28976,
"hgvs_c": "c.-98-910A>T",
"hgvs_p": null,
"transcript": "ENST00000392102.6",
"protein_id": "ENSP00000375951.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1199,
"cds_start": null,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5007,
"mane_select": "NM_014640.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392102.6"
},
{
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTLL4",
"gene_hgnc_id": 28976,
"hgvs_c": "c.-98-910A>T",
"hgvs_p": null,
"transcript": "ENST00000863361.1",
"protein_id": "ENSP00000533420.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1226,
"cds_start": null,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863361.1"
},
{
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTLL4",
"gene_hgnc_id": 28976,
"hgvs_c": "c.-98-910A>T",
"hgvs_p": null,
"transcript": "ENST00000917351.1",
"protein_id": "ENSP00000587410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1224,
"cds_start": null,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917351.1"
},
{
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTLL4",
"gene_hgnc_id": 28976,
"hgvs_c": "c.-98-910A>T",
"hgvs_p": null,
"transcript": "ENST00000917349.1",
"protein_id": "ENSP00000587408.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1217,
"cds_start": null,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917349.1"
},
{
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTLL4",
"gene_hgnc_id": 28976,
"hgvs_c": "c.-98-910A>T",
"hgvs_p": null,
"transcript": "ENST00000863359.1",
"protein_id": "ENSP00000533418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1199,
"cds_start": null,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863359.1"
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTLL4",
"gene_hgnc_id": 28976,
"hgvs_c": "c.-98-910A>T",
"hgvs_p": null,
"transcript": "ENST00000863363.1",
"protein_id": "ENSP00000533422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1199,
"cds_start": null,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863363.1"
},
{
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TTLL4",
"gene_hgnc_id": 28976,
"hgvs_c": "c.-98-910A>T",
"hgvs_p": null,
"transcript": "ENST00000917352.1",
"protein_id": "ENSP00000587411.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1199,
"cds_start": null,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4289,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917352.1"
},
{
"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": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TTLL4",
"gene_hgnc_id": 28976,
"hgvs_c": "c.-220-202A>T",
"hgvs_p": null,
"transcript": "ENST00000958172.1",
"protein_id": "ENSP00000628231.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1199,
"cds_start": null,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
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"cdna_length": 4335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958172.1"
},
{
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTLL4",
"gene_hgnc_id": 28976,
"hgvs_c": "c.-98-910A>T",
"hgvs_p": null,
"transcript": "ENST00000917350.1",
"protein_id": "ENSP00000587409.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1198,
"cds_start": null,
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"cds_length": 3597,
"cdna_start": null,
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"cdna_length": 4281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917350.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTLL4",
"gene_hgnc_id": 28976,
"hgvs_c": "c.-98-910A>T",
"hgvs_p": null,
"transcript": "ENST00000863362.1",
"protein_id": "ENSP00000533421.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "TTLL4",
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"hgvs_c": "c.-98-910A>T",
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"transcript": "ENST00000863360.1",
"protein_id": "ENSP00000533419.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"mane_select": 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": 20,
"intron_rank": 2,
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"gene_symbol": "TTLL4",
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"hgvs_c": "c.-98-910A>T",
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"transcript": "ENST00000917353.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "TTLL4",
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"hgvs_c": "c.-98-910A>T",
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"transcript": "ENST00000442769.5",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 1,
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"gene_symbol": "TTLL4",
"gene_hgnc_id": 28976,
"hgvs_c": "c.-264-1239A>T",
"hgvs_p": null,
"transcript": "ENST00000457313.5",
"protein_id": "ENSP00000393332.1",
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"aa_start": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "TTLL4",
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"transcript": "ENST00000917354.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTLL4",
"gene_hgnc_id": 28976,
"hgvs_c": "c.-98-910A>T",
"hgvs_p": null,
"transcript": "ENST00000437755.1",
"protein_id": "ENSP00000391342.1",
"transcript_support_level": 3,
"aa_start": null,
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"mane_select": null,
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"feature": "ENST00000437755.1"
},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TTLL4",
"gene_hgnc_id": 28976,
"hgvs_c": "c.-98-910A>T",
"hgvs_p": null,
"transcript": "ENST00000415717.5",
"protein_id": "ENSP00000411228.1",
"transcript_support_level": 3,
"aa_start": null,
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},
{
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],
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"intron_rank_end": null,
"gene_symbol": "TTLL4",
"gene_hgnc_id": 28976,
"hgvs_c": "c.-99+293A>T",
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"transcript": "ENST00000424644.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "TTLL4",
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"transcript": "XM_017005387.2",
"protein_id": "XP_016860876.1",
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},
{
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],
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"gene_symbol": "TTLL4",
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"hgvs_c": "c.-98-910A>T",
"hgvs_p": null,
"transcript": "XM_017005388.2",
"protein_id": "XP_016860877.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017005388.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTLL4",
"gene_hgnc_id": 28976,
"hgvs_c": "c.-98-910A>T",
"hgvs_p": null,
"transcript": "XM_017005390.2",
"protein_id": "XP_016860879.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017005390.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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}