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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: 2-238397627-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=238397627&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 238397627,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015650.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.1858A>C",
"hgvs_p": "p.Met620Leu",
"transcript": "NM_015650.4",
"protein_id": "NP_056465.2",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 691,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373327.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015650.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.1858A>C",
"hgvs_p": "p.Met620Leu",
"transcript": "ENST00000373327.5",
"protein_id": "ENSP00000362424.4",
"transcript_support_level": 1,
"aa_start": 620,
"aa_end": null,
"aa_length": 691,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015650.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373327.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.1660A>C",
"hgvs_p": "p.Met554Leu",
"transcript": "ENST00000391993.7",
"protein_id": "ENSP00000375851.3",
"transcript_support_level": 1,
"aa_start": 554,
"aa_end": null,
"aa_length": 625,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391993.7"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.1762A>C",
"hgvs_p": "p.Met588Leu",
"transcript": "ENST00000935943.1",
"protein_id": "ENSP00000606002.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 659,
"cds_start": 1762,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935943.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.1756A>C",
"hgvs_p": "p.Met586Leu",
"transcript": "ENST00000935944.1",
"protein_id": "ENSP00000606003.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 657,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935944.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.1753A>C",
"hgvs_p": "p.Met585Leu",
"transcript": "ENST00000968976.1",
"protein_id": "ENSP00000639035.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 656,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968976.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.1660A>C",
"hgvs_p": "p.Met554Leu",
"transcript": "NM_001139490.1",
"protein_id": "NP_001132962.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 625,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001139490.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.1657A>C",
"hgvs_p": "p.Met553Leu",
"transcript": "ENST00000968966.1",
"protein_id": "ENSP00000639025.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 624,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968966.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.1657A>C",
"hgvs_p": "p.Met553Leu",
"transcript": "ENST00000968970.1",
"protein_id": "ENSP00000639029.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 624,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968970.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.1654A>C",
"hgvs_p": "p.Met552Leu",
"transcript": "ENST00000968977.1",
"protein_id": "ENSP00000639036.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 623,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968977.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.1588A>C",
"hgvs_p": "p.Met530Leu",
"transcript": "ENST00000968969.1",
"protein_id": "ENSP00000639028.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 601,
"cds_start": 1588,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968969.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.1516A>C",
"hgvs_p": "p.Met506Leu",
"transcript": "ENST00000968971.1",
"protein_id": "ENSP00000639030.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 577,
"cds_start": 1516,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968971.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.1474A>C",
"hgvs_p": "p.Met492Leu",
"transcript": "ENST00000968974.1",
"protein_id": "ENSP00000639033.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 563,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968974.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.1429A>C",
"hgvs_p": "p.Met477Leu",
"transcript": "ENST00000968973.1",
"protein_id": "ENSP00000639032.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 548,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968973.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.1390A>C",
"hgvs_p": "p.Met464Leu",
"transcript": "ENST00000935945.1",
"protein_id": "ENSP00000606004.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 535,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935945.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.1285A>C",
"hgvs_p": "p.Met429Leu",
"transcript": "ENST00000968967.1",
"protein_id": "ENSP00000639026.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 500,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968967.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.1213A>C",
"hgvs_p": "p.Met405Leu",
"transcript": "ENST00000968972.1",
"protein_id": "ENSP00000639031.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 476,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968972.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.1084A>C",
"hgvs_p": "p.Met362Leu",
"transcript": "ENST00000968968.1",
"protein_id": "ENSP00000639027.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 433,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968968.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.868A>C",
"hgvs_p": "p.Met290Leu",
"transcript": "ENST00000876684.1",
"protein_id": "ENSP00000546743.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 361,
"cds_start": 868,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876684.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.682A>C",
"hgvs_p": "p.Met228Leu",
"transcript": "ENST00000968975.1",
"protein_id": "ENSP00000639034.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 299,
"cds_start": 682,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968975.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Met98Leu",
"transcript": "ENST00000968978.1",
"protein_id": "ENSP00000639037.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 169,
"cds_start": 292,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968978.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP1",
"gene_hgnc_id": 17861,
"hgvs_c": "c.1960A>C",
"hgvs_p": "p.Met654Leu",
"transcript": "XM_011510944.3",
"protein_id": "XP_011509246.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 725,
"cds_start": 1960,
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{
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"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}