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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: 7-128029502-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128029502&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 128029502,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_022143.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4",
"gene_hgnc_id": 15586,
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Ser380Phe",
"transcript": "NM_022143.5",
"protein_id": "NP_071426.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 653,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000249363.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022143.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4",
"gene_hgnc_id": 15586,
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Ser380Phe",
"transcript": "ENST00000249363.4",
"protein_id": "ENSP00000249363.3",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 653,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022143.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000249363.4"
},
{
"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": 24,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1779+38446G>A",
"hgvs_p": null,
"transcript": "NM_014390.4",
"protein_id": "NP_055205.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 910,
"cds_start": null,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354725.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014390.4"
},
{
"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": 24,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1779+38446G>A",
"hgvs_p": null,
"transcript": "ENST00000354725.8",
"protein_id": "ENSP00000346762.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 910,
"cds_start": null,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014390.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354725.8"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4",
"gene_hgnc_id": 15586,
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Ser380Phe",
"transcript": "ENST00000944855.1",
"protein_id": "ENSP00000614914.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 653,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944855.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4",
"gene_hgnc_id": 15586,
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Ser380Phe",
"transcript": "XM_011516461.4",
"protein_id": "XP_011514763.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 653,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516461.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4",
"gene_hgnc_id": 15586,
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Ser380Phe",
"transcript": "XM_047420695.1",
"protein_id": "XP_047276651.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 653,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420695.1"
},
{
"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": 25,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1937+38446G>A",
"hgvs_p": null,
"transcript": "ENST00000903603.1",
"protein_id": "ENSP00000573662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 971,
"cds_start": null,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903603.1"
},
{
"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": 25,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1869+38446G>A",
"hgvs_p": null,
"transcript": "ENST00000915268.1",
"protein_id": "ENSP00000585327.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 940,
"cds_start": null,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915268.1"
},
{
"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": 24,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1828-45000G>A",
"hgvs_p": null,
"transcript": "ENST00000903607.1",
"protein_id": "ENSP00000573666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": null,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903607.1"
},
{
"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": 25,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1815+38446G>A",
"hgvs_p": null,
"transcript": "ENST00000944753.1",
"protein_id": "ENSP00000614812.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 922,
"cds_start": null,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944753.1"
},
{
"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": 25,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1812+38446G>A",
"hgvs_p": null,
"transcript": "ENST00000944750.1",
"protein_id": "ENSP00000614809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": null,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944750.1"
},
{
"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": 24,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1785+38446G>A",
"hgvs_p": null,
"transcript": "ENST00000944754.1",
"protein_id": "ENSP00000614813.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 912,
"cds_start": null,
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"cds_length": 2739,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944754.1"
},
{
"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": 24,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1773+38446G>A",
"hgvs_p": null,
"transcript": "ENST00000915267.1",
"protein_id": "ENSP00000585326.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915267.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1779+38446G>A",
"hgvs_p": null,
"transcript": "ENST00000944748.1",
"protein_id": "ENSP00000614807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 908,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944748.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1770+38446G>A",
"hgvs_p": null,
"transcript": "ENST00000944749.1",
"protein_id": "ENSP00000614808.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944749.1"
},
{
"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": 24,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1779+38446G>A",
"hgvs_p": null,
"transcript": "ENST00000903609.1",
"protein_id": "ENSP00000573668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 906,
"cds_start": null,
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"cds_length": 2721,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903609.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1767+38446G>A",
"hgvs_p": null,
"transcript": "ENST00000944752.1",
"protein_id": "ENSP00000614811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": 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": "ENST00000944752.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1779+38446G>A",
"hgvs_p": null,
"transcript": "ENST00000903604.1",
"protein_id": "ENSP00000573663.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000903604.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1689+38446G>A",
"hgvs_p": null,
"transcript": "ENST00000915265.1",
"protein_id": "ENSP00000585324.1",
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000915265.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1668+38446G>A",
"hgvs_p": null,
"transcript": "ENST00000903606.1",
"protein_id": "ENSP00000573665.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 873,
"cds_start": null,
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"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903606.1"
},
{
"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": 23,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1665+38446G>A",
"hgvs_p": null,
"transcript": "ENST00000903602.1",
"protein_id": "ENSP00000573661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 872,
"cds_start": null,
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"cds_length": 2619,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903602.1"
},
{
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"aa_alt": null,
"canonical": false,
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}