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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: 7-121351165-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=121351165&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 121351165,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014888.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "NM_014888.3",
"protein_id": "NP_055703.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 227,
"cds_start": 572,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359943.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014888.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "ENST00000359943.8",
"protein_id": "ENSP00000353025.3",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 227,
"cds_start": 572,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014888.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359943.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.623A>G",
"hgvs_p": "p.Lys208Arg",
"transcript": "ENST00000892193.1",
"protein_id": "ENSP00000562252.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 244,
"cds_start": 623,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892193.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "NM_001040020.2",
"protein_id": "NP_001035109.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 227,
"cds_start": 572,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040020.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "ENST00000850865.1",
"protein_id": "ENSP00000520951.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 227,
"cds_start": 572,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850865.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "ENST00000892184.1",
"protein_id": "ENSP00000562243.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 227,
"cds_start": 572,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892184.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "ENST00000892185.1",
"protein_id": "ENSP00000562244.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 227,
"cds_start": 572,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892185.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "ENST00000892187.1",
"protein_id": "ENSP00000562246.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 227,
"cds_start": 572,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892187.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "ENST00000892188.1",
"protein_id": "ENSP00000562247.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 227,
"cds_start": 572,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892188.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "ENST00000892190.1",
"protein_id": "ENSP00000562249.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 227,
"cds_start": 572,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892190.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "ENST00000892192.1",
"protein_id": "ENSP00000562251.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 227,
"cds_start": 572,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892192.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "ENST00000892196.1",
"protein_id": "ENSP00000562255.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 227,
"cds_start": 572,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892196.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "ENST00000892197.1",
"protein_id": "ENSP00000562256.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 227,
"cds_start": 572,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892197.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "ENST00000892198.1",
"protein_id": "ENSP00000562257.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 227,
"cds_start": 572,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892198.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "ENST00000892199.1",
"protein_id": "ENSP00000562258.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 227,
"cds_start": 572,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892199.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "ENST00000892200.1",
"protein_id": "ENSP00000562259.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 227,
"cds_start": 572,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892200.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "ENST00000892201.1",
"protein_id": "ENSP00000562260.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 227,
"cds_start": 572,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892201.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "ENST00000892202.1",
"protein_id": "ENSP00000562261.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 227,
"cds_start": 572,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892202.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "ENST00000951274.1",
"protein_id": "ENSP00000621333.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 227,
"cds_start": 572,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951274.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "ENST00000951277.1",
"protein_id": "ENSP00000621336.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 227,
"cds_start": 572,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951277.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "ENST00000951278.1",
"protein_id": "ENSP00000621337.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 227,
"cds_start": 572,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951278.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3C",
"gene_hgnc_id": 18664,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "ENST00000951279.1",
"protein_id": "ENSP00000621338.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 227,
"cds_start": 572,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}