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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: 3-37047542-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=37047542&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 37047542,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000231790.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1755T>C",
"hgvs_p": "p.Leu585Leu",
"transcript": "NM_000249.4",
"protein_id": "NP_000240.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 756,
"cds_start": 1755,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": "ENST00000231790.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1755T>C",
"hgvs_p": "p.Leu585Leu",
"transcript": "ENST00000231790.8",
"protein_id": "ENSP00000231790.3",
"transcript_support_level": 1,
"aa_start": 585,
"aa_end": null,
"aa_length": 756,
"cds_start": 1755,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": "NM_000249.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1755T>C",
"hgvs_p": "p.Leu585Leu",
"transcript": "ENST00000456676.7",
"protein_id": "ENSP00000416687.3",
"transcript_support_level": 1,
"aa_start": 585,
"aa_end": null,
"aa_length": 687,
"cds_start": 1755,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1032T>C",
"hgvs_p": "p.Leu344Leu",
"transcript": "ENST00000458205.6",
"protein_id": "ENSP00000402667.2",
"transcript_support_level": 1,
"aa_start": 344,
"aa_end": null,
"aa_length": 515,
"cds_start": 1032,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "n.*1587T>C",
"hgvs_p": null,
"transcript": "ENST00000432299.6",
"protein_id": "ENSP00000416783.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "n.*866T>C",
"hgvs_p": null,
"transcript": "ENST00000447829.6",
"protein_id": "ENSP00000399329.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "n.*656T>C",
"hgvs_p": null,
"transcript": "ENST00000458009.7",
"protein_id": "ENSP00000411066.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "n.*1587T>C",
"hgvs_p": null,
"transcript": "ENST00000432299.6",
"protein_id": "ENSP00000416783.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "n.*866T>C",
"hgvs_p": null,
"transcript": "ENST00000447829.6",
"protein_id": "ENSP00000399329.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "n.*656T>C",
"hgvs_p": null,
"transcript": "ENST00000458009.7",
"protein_id": "ENSP00000411066.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1668-2944T>C",
"hgvs_p": null,
"transcript": "ENST00000413740.2",
"protein_id": "ENSP00000416476.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 610,
"cds_start": -4,
"cds_end": null,
"cds_length": 1835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1559-2944T>C",
"hgvs_p": null,
"transcript": "ENST00000450420.6",
"protein_id": "ENSP00000393006.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 520,
"cds_start": -4,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.968T>C",
"hgvs_p": "p.Leu323Ser",
"transcript": "ENST00000441265.6",
"protein_id": "ENSP00000398392.2",
"transcript_support_level": 5,
"aa_start": 323,
"aa_end": null,
"aa_length": 327,
"cds_start": 968,
"cds_end": null,
"cds_length": 984,
"cdna_start": 1787,
"cdna_end": null,
"cdna_length": 1982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1755T>C",
"hgvs_p": "p.Leu585Leu",
"transcript": "NM_001354628.2",
"protein_id": "NP_001341557.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 725,
"cds_start": 1755,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1755T>C",
"hgvs_p": "p.Leu585Leu",
"transcript": "ENST00000616768.6",
"protein_id": "ENSP00000480669.3",
"transcript_support_level": 2,
"aa_start": 585,
"aa_end": null,
"aa_length": 725,
"cds_start": 1755,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1831,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1656T>C",
"hgvs_p": "p.Leu552Leu",
"transcript": "NM_001354629.2",
"protein_id": "NP_001341558.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 723,
"cds_start": 1656,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 2395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1656T>C",
"hgvs_p": "p.Leu552Leu",
"transcript": "ENST00000713802.1",
"protein_id": "ENSP00000519108.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 723,
"cds_start": 1656,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 2366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1755T>C",
"hgvs_p": "p.Leu585Leu",
"transcript": "NM_001258271.2",
"protein_id": "NP_001245200.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 687,
"cds_start": 1755,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1461T>C",
"hgvs_p": "p.Leu487Leu",
"transcript": "NM_001167617.3",
"protein_id": "NP_001161089.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 658,
"cds_start": 1461,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 2007,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1461T>C",
"hgvs_p": "p.Leu487Leu",
"transcript": "NM_001354620.2",
"protein_id": "NP_001341549.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 658,
"cds_start": 1461,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1461T>C",
"hgvs_p": "p.Leu487Leu",
"transcript": "ENST00000429117.6",
"protein_id": "ENSP00000407019.2",
"transcript_support_level": 4,
"aa_start": 487,
"aa_end": null,
"aa_length": 658,
"cds_start": 1461,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 2482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1461T>C",
"hgvs_p": "p.Leu487Leu",
"transcript": "ENST00000435176.5",
"protein_id": "ENSP00000402564.1",
"transcript_support_level": 2,
"aa_start": 487,
"aa_end": null,
"aa_length": 658,
"cds_start": 1461,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 2428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1755T>C",
"hgvs_p": "p.Leu585Leu",
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"revel_score": 0.319,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.554,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -7,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 9,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000231790.8",
"gene_symbol": "MLH1",
"hgnc_id": 7127,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1755T>C",
"hgvs_p": "p.Leu585Leu"
}
],
"clinvar_disease": " hereditary nonpolyposis, type 2,Colorectal cancer,Hereditary cancer-predisposing syndrome,Hereditary nonpolyposis colorectal neoplasms,Lynch syndrome",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:1",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 2|Lynch syndrome",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}