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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: 3-37050512-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=37050512&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 37050512,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000231790.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.2130C>G",
"hgvs_p": "p.Asn710Lys",
"transcript": "NM_000249.4",
"protein_id": "NP_000240.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 756,
"cds_start": 2130,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2160,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": "ENST00000231790.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.2130C>G",
"hgvs_p": "p.Asn710Lys",
"transcript": "ENST00000231790.8",
"protein_id": "ENSP00000231790.3",
"transcript_support_level": 1,
"aa_start": 710,
"aa_end": null,
"aa_length": 756,
"cds_start": 2130,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2160,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": "NM_000249.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1923C>G",
"hgvs_p": "p.Asn641Lys",
"transcript": "ENST00000456676.7",
"protein_id": "ENSP00000416687.3",
"transcript_support_level": 1,
"aa_start": 641,
"aa_end": null,
"aa_length": 687,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"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.1694C>G",
"hgvs_p": "p.Thr565Ser",
"transcript": "ENST00000413740.2",
"protein_id": "ENSP00000416476.2",
"transcript_support_level": 1,
"aa_start": 565,
"aa_end": null,
"aa_length": 610,
"cds_start": 1694,
"cds_end": null,
"cds_length": 1835,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1407C>G",
"hgvs_p": "p.Asn469Lys",
"transcript": "ENST00000458205.6",
"protein_id": "ENSP00000402667.2",
"transcript_support_level": 1,
"aa_start": 469,
"aa_end": null,
"aa_length": 515,
"cds_start": 1407,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 2274,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "n.*1962C>G",
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "n.*1241C>G",
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "n.*1031C>G",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.*22C>G",
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "n.*1962C>G",
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "n.*1241C>G",
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "n.*1031C>G",
"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": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.2037C>G",
"hgvs_p": "p.Asn679Lys",
"transcript": "NM_001354628.2",
"protein_id": "NP_001341557.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 725,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2067,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.2037C>G",
"hgvs_p": "p.Asn679Lys",
"transcript": "ENST00000616768.6",
"protein_id": "ENSP00000480669.3",
"transcript_support_level": 2,
"aa_start": 679,
"aa_end": null,
"aa_length": 725,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2113,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.2031C>G",
"hgvs_p": "p.Asn677Lys",
"transcript": "NM_001354629.2",
"protein_id": "NP_001341558.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 723,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 2395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.2031C>G",
"hgvs_p": "p.Asn677Lys",
"transcript": "ENST00000713802.1",
"protein_id": "ENSP00000519108.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 723,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 2366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1965C>G",
"hgvs_p": "p.Asn655Lys",
"transcript": "NM_001354630.2",
"protein_id": "NP_001341559.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 701,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1965C>G",
"hgvs_p": "p.Asn655Lys",
"transcript": "ENST00000673673.2",
"protein_id": "ENSP00000500979.2",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 701,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2287,
"cdna_end": null,
"cdna_length": 2574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1923C>G",
"hgvs_p": "p.Asn641Lys",
"transcript": "NM_001258271.2",
"protein_id": "NP_001245200.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 687,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1836C>G",
"hgvs_p": "p.Asn612Lys",
"transcript": "NM_001167617.3",
"protein_id": "NP_001161089.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 658,
"cds_start": 1836,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 2382,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1836C>G",
"hgvs_p": "p.Asn612Lys",
"transcript": "NM_001354620.2",
"protein_id": "NP_001341549.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 658,
"cds_start": 1836,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 2150,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1836C>G",
"hgvs_p": "p.Asn612Lys",
"transcript": "ENST00000429117.6",
"protein_id": "ENSP00000407019.2",
"transcript_support_level": 4,
"aa_start": 612,
"aa_end": null,
"aa_length": 658,
"cds_start": 1836,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 2148,
"cdna_end": null,
"cdna_length": 2482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1836C>G",
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"benign_score": 2,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000231790.8",
"gene_symbol": "MLH1",
"hgnc_id": 7127,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2130C>G",
"hgvs_p": "p.Asn710Lys"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Hereditary nonpolyposis colorectal neoplasms",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}