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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: 2-27477310-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27477310&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27477310,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015662.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.1232T>A",
"hgvs_p": "p.Ile411Asn",
"transcript": "NM_015662.3",
"protein_id": "NP_056477.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1749,
"cds_start": 1232,
"cds_end": null,
"cds_length": 5250,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": "ENST00000260570.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015662.3"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.1232T>A",
"hgvs_p": "p.Ile411Asn",
"transcript": "ENST00000260570.8",
"protein_id": "ENSP00000260570.3",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 1749,
"cds_start": 1232,
"cds_end": null,
"cds_length": 5250,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": "NM_015662.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260570.8"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.1232T>A",
"hgvs_p": "p.Ile411Asn",
"transcript": "ENST00000359466.10",
"protein_id": "ENSP00000352443.6",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 532,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359466.10"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.1232T>A",
"hgvs_p": "p.Ile411Asn",
"transcript": "ENST00000945698.1",
"protein_id": "ENSP00000615757.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1786,
"cds_start": 1232,
"cds_end": null,
"cds_length": 5361,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 5500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945698.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.1232T>A",
"hgvs_p": "p.Ile411Asn",
"transcript": "NM_001410739.1",
"protein_id": "NP_001397668.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1727,
"cds_start": 1232,
"cds_end": null,
"cds_length": 5184,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 5329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410739.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.1232T>A",
"hgvs_p": "p.Ile411Asn",
"transcript": "ENST00000675690.1",
"protein_id": "ENSP00000502283.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1727,
"cds_start": 1232,
"cds_end": null,
"cds_length": 5184,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 5340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675690.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.1232T>A",
"hgvs_p": "p.Ile411Asn",
"transcript": "ENST00000923256.1",
"protein_id": "ENSP00000593315.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1716,
"cds_start": 1232,
"cds_end": null,
"cds_length": 5151,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 5274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923256.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.1232T>A",
"hgvs_p": "p.Ile411Asn",
"transcript": "ENST00000872012.1",
"protein_id": "ENSP00000542071.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1713,
"cds_start": 1232,
"cds_end": null,
"cds_length": 5142,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 5380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872012.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.1232T>A",
"hgvs_p": "p.Ile411Asn",
"transcript": "ENST00000945697.1",
"protein_id": "ENSP00000615756.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1706,
"cds_start": 1232,
"cds_end": null,
"cds_length": 5121,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 5322,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945697.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.1169T>A",
"hgvs_p": "p.Ile390Asn",
"transcript": "ENST00000416524.2",
"protein_id": "ENSP00000407408.2",
"transcript_support_level": 2,
"aa_start": 390,
"aa_end": null,
"aa_length": 511,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1452,
"cdna_end": null,
"cdna_length": 1982,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416524.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.1169T>A",
"hgvs_p": "p.Ile390Asn",
"transcript": "ENST00000675728.1",
"protein_id": "ENSP00000501700.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 511,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1444,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675728.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.1169T>A",
"hgvs_p": "p.Ile390Asn",
"transcript": "XM_006711986.4",
"protein_id": "XP_006712049.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 1728,
"cds_start": 1169,
"cds_end": null,
"cds_length": 5187,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 5479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711986.4"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.1232T>A",
"hgvs_p": "p.Ile411Asn",
"transcript": "XM_006711987.2",
"protein_id": "XP_006712050.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1716,
"cds_start": 1232,
"cds_end": null,
"cds_length": 5151,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 5296,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711987.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.1232T>A",
"hgvs_p": "p.Ile411Asn",
"transcript": "XM_047443900.1",
"protein_id": "XP_047299856.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1694,
"cds_start": 1232,
"cds_end": null,
"cds_length": 5085,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 5230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443900.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.551T>A",
"hgvs_p": "p.Ile184Asn",
"transcript": "XM_047443901.1",
"protein_id": "XP_047299857.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 1522,
"cds_start": 551,
"cds_end": null,
"cds_length": 4569,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 5108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443901.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.551T>A",
"hgvs_p": "p.Ile184Asn",
"transcript": "XM_047443902.1",
"protein_id": "XP_047299858.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 1522,
"cds_start": 551,
"cds_end": null,
"cds_length": 4569,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 5017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443902.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.1232T>A",
"hgvs_p": "p.Ile411Asn",
"transcript": "XM_011532758.2",
"protein_id": "XP_011531060.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1327,
"cds_start": 1232,
"cds_end": null,
"cds_length": 3984,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 4175,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532758.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.1232T>A",
"hgvs_p": "p.Ile411Asn",
"transcript": "XM_047443903.1",
"protein_id": "XP_047299859.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1305,
"cds_start": 1232,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 4109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443903.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.1521T>A",
"hgvs_p": null,
"transcript": "ENST00000476264.7",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3005,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000476264.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.1364T>A",
"hgvs_p": null,
"transcript": "ENST00000507184.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5565,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000507184.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.1257T>A",
"hgvs_p": null,
"transcript": "ENST00000511842.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000511842.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.1232T>A",
"hgvs_p": null,
"transcript": "ENST00000674701.1",
"protein_id": "ENSP00000502275.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": 0.9595,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.558,
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"spliceai_max_score": 0,
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"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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],
"verdict": "Uncertain_significance",
"transcript": "NM_015662.3",
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"inheritance_mode": "AR,AD",
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],
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Short-rib thoracic dysplasia 10 with or without polydactyly",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}