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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: 16-11679310-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=11679310&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 11679310,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001303447.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2762A>T",
"hgvs_p": "p.His921Leu",
"transcript": "NM_015914.7",
"protein_id": "NP_056998.4",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 958,
"cds_start": 2762,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000283033.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015914.7"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2762A>T",
"hgvs_p": "p.His921Leu",
"transcript": "ENST00000283033.10",
"protein_id": "ENSP00000283033.5",
"transcript_support_level": 2,
"aa_start": 921,
"aa_end": null,
"aa_length": 958,
"cds_start": 2762,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015914.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283033.10"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2843A>T",
"hgvs_p": "p.His948Leu",
"transcript": "ENST00000356957.7",
"protein_id": "ENSP00000349439.3",
"transcript_support_level": 1,
"aa_start": 948,
"aa_end": null,
"aa_length": 985,
"cds_start": 2843,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356957.7"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2963A>T",
"hgvs_p": "p.His988Leu",
"transcript": "ENST00000907109.1",
"protein_id": "ENSP00000577168.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2963,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907109.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2882A>T",
"hgvs_p": "p.His961Leu",
"transcript": "ENST00000907105.1",
"protein_id": "ENSP00000577164.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 998,
"cds_start": 2882,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907105.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2879A>T",
"hgvs_p": "p.His960Leu",
"transcript": "ENST00000907106.1",
"protein_id": "ENSP00000577165.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 997,
"cds_start": 2879,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907106.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2843A>T",
"hgvs_p": "p.His948Leu",
"transcript": "NM_001303447.2",
"protein_id": "NP_001290376.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 985,
"cds_start": 2843,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303447.2"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2705A>T",
"hgvs_p": "p.His902Leu",
"transcript": "ENST00000907111.1",
"protein_id": "ENSP00000577170.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 939,
"cds_start": 2705,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907111.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2555A>T",
"hgvs_p": "p.His852Leu",
"transcript": "ENST00000907110.1",
"protein_id": "ENSP00000577169.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 889,
"cds_start": 2555,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907110.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2447A>T",
"hgvs_p": "p.His816Leu",
"transcript": "ENST00000907108.1",
"protein_id": "ENSP00000577167.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 853,
"cds_start": 2447,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907108.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2354A>T",
"hgvs_p": "p.His785Leu",
"transcript": "ENST00000907107.1",
"protein_id": "ENSP00000577166.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 822,
"cds_start": 2354,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907107.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2120A>T",
"hgvs_p": "p.His707Leu",
"transcript": "NM_001324022.2",
"protein_id": "NP_001310951.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 744,
"cds_start": 2120,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324022.2"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.1655A>T",
"hgvs_p": "p.His552Leu",
"transcript": "ENST00000907112.1",
"protein_id": "ENSP00000577171.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 589,
"cds_start": 1655,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907112.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.1406A>T",
"hgvs_p": "p.His469Leu",
"transcript": "NM_001324024.2",
"protein_id": "NP_001310953.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 506,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324024.2"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.1406A>T",
"hgvs_p": "p.His469Leu",
"transcript": "NM_001324025.2",
"protein_id": "NP_001310954.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 506,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324025.2"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2882A>T",
"hgvs_p": "p.His961Leu",
"transcript": "XM_011522515.3",
"protein_id": "XP_011520817.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 998,
"cds_start": 2882,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522515.3"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2240A>T",
"hgvs_p": "p.His747Leu",
"transcript": "XM_047434191.1",
"protein_id": "XP_047290147.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 784,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434191.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.1406A>T",
"hgvs_p": "p.His469Leu",
"transcript": "XM_047434192.1",
"protein_id": "XP_047290148.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 506,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434192.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "n.972A>T",
"hgvs_p": null,
"transcript": "ENST00000570917.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000570917.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "n.2096A>T",
"hgvs_p": null,
"transcript": "NR_136671.2",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136671.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "n.1983A>T",
"hgvs_p": null,
"transcript": "NR_136672.2",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136672.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "n.1966A>T",
"hgvs_p": null,
"transcript": "NR_136673.2",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": null,
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{
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}