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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: 3-136946128-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=136946128&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 136946128,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006153.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Gly258Arg",
"transcript": "NM_001291999.2",
"protein_id": "NP_001278928.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 377,
"cds_start": 772,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 4451,
"mane_select": "ENST00000481752.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291999.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Gly258Arg",
"transcript": "ENST00000481752.6",
"protein_id": "ENSP00000417273.1",
"transcript_support_level": 5,
"aa_start": 258,
"aa_end": null,
"aa_length": 377,
"cds_start": 772,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 4451,
"mane_select": "NM_001291999.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481752.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Gly258Arg",
"transcript": "ENST00000288986.6",
"protein_id": "ENSP00000288986.2",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 377,
"cds_start": 772,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 1937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000288986.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.955G>C",
"hgvs_p": "p.Gly319Arg",
"transcript": "ENST00000951211.1",
"protein_id": "ENSP00000621270.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 438,
"cds_start": 955,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 2424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951211.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.865G>C",
"hgvs_p": "p.Gly289Arg",
"transcript": "ENST00000951212.1",
"protein_id": "ENSP00000621271.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 408,
"cds_start": 865,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 2014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951212.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Gly258Arg",
"transcript": "NM_006153.6",
"protein_id": "NP_006144.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 377,
"cds_start": 772,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 4417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006153.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Gly258Arg",
"transcript": "ENST00000898712.1",
"protein_id": "ENSP00000568771.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 377,
"cds_start": 772,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898712.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Gly258Arg",
"transcript": "ENST00000898713.1",
"protein_id": "ENSP00000568772.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 377,
"cds_start": 772,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898713.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Gly258Arg",
"transcript": "ENST00000898714.1",
"protein_id": "ENSP00000568773.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 377,
"cds_start": 772,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898714.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Gly258Arg",
"transcript": "ENST00000898715.1",
"protein_id": "ENSP00000568774.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 377,
"cds_start": 772,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 2026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898715.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Gly258Arg",
"transcript": "ENST00000898716.1",
"protein_id": "ENSP00000568775.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 377,
"cds_start": 772,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 1998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898716.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Gly258Arg",
"transcript": "ENST00000898717.1",
"protein_id": "ENSP00000568776.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 377,
"cds_start": 772,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 2014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898717.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Gly258Arg",
"transcript": "ENST00000898718.1",
"protein_id": "ENSP00000568777.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 377,
"cds_start": 772,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 1999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898718.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Gly258Arg",
"transcript": "ENST00000898719.1",
"protein_id": "ENSP00000568778.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 377,
"cds_start": 772,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898719.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Gly258Arg",
"transcript": "ENST00000898720.1",
"protein_id": "ENSP00000568779.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 377,
"cds_start": 772,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 1967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898720.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Gly258Arg",
"transcript": "ENST00000898721.1",
"protein_id": "ENSP00000568780.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 377,
"cds_start": 772,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898721.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Gly258Arg",
"transcript": "ENST00000938741.1",
"protein_id": "ENSP00000608800.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 377,
"cds_start": 772,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938741.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Gly258Arg",
"transcript": "ENST00000951209.1",
"protein_id": "ENSP00000621268.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 377,
"cds_start": 772,
"cds_end": null,
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"cdna_start": 964,
"cdna_end": null,
"cdna_length": 4471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951209.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Gly258Arg",
"transcript": "ENST00000951210.1",
"protein_id": "ENSP00000621269.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 377,
"cds_start": 772,
"cds_end": null,
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"cdna_start": 981,
"cdna_end": null,
"cdna_length": 3077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951210.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Gly258Arg",
"transcript": "ENST00000951213.1",
"protein_id": "ENSP00000621272.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 377,
"cds_start": 772,
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"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951213.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Gly258Arg",
"transcript": "ENST00000951214.1",
"protein_id": "ENSP00000621273.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 377,
"cds_start": 772,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951214.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCK1",
"gene_hgnc_id": 7664,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Gly258Arg",
"transcript": "ENST00000951215.1",
"protein_id": "ENSP00000621274.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 377,
"cds_start": 772,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 962,
"cdna_end": null,
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{
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{
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],
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"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}