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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: 3-37048997-TC-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=37048997&ref=TC&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MLH1",
"hgnc_id": 7127,
"hgvs_c": "c.2083_2084delTCinsCT",
"hgvs_p": "p.Ser695Leu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_000249.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "S",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 2113,
"cds_end": null,
"cds_length": 2271,
"cds_start": 2083,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000249.4",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.2083_2084delTCinsCT",
"hgvs_p": "p.Ser695Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000231790.8",
"protein_coding": true,
"protein_id": "NP_000240.1",
"strand": true,
"transcript": "NM_000249.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "S",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 2113,
"cds_end": null,
"cds_length": 2271,
"cds_start": 2083,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000231790.8",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.2083_2084delTCinsCT",
"hgvs_p": "p.Ser695Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000249.4",
"protein_coding": true,
"protein_id": "ENSP00000231790.3",
"strand": true,
"transcript": "ENST00000231790.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 515,
"aa_ref": "S",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2608,
"cdna_start": 2227,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000458205.6",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1360_1361delTCinsCT",
"hgvs_p": "p.Ser454Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402667.2",
"strand": true,
"transcript": "ENST00000458205.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 687,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": null,
"cds_end": null,
"cds_length": 2064,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000456676.7",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1896+1314_1896+1315delTCinsCT",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416687.3",
"strand": true,
"transcript": "ENST00000456676.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 610,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2219,
"cdna_start": null,
"cds_end": null,
"cds_length": 1835,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000413740.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1668-1489_1668-1488delTCinsCT",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416476.2",
"strand": true,
"transcript": "ENST00000413740.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 520,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1640,
"cdna_start": null,
"cds_end": null,
"cds_length": 1563,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000450420.6",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1559-1489_1559-1488delTCinsCT",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393006.2",
"strand": true,
"transcript": "ENST00000450420.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000432299.6",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*1915_*1916delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000416783.1",
"strand": true,
"transcript": "ENST00000432299.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000447829.6",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*1194_*1195delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000399329.2",
"strand": true,
"transcript": "ENST00000447829.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2340,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000458009.7",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*984_*985delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000411066.2",
"strand": true,
"transcript": "ENST00000458009.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000432299.6",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*1915_*1916delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000416783.1",
"strand": true,
"transcript": "ENST00000432299.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000447829.6",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*1194_*1195delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000399329.2",
"strand": true,
"transcript": "ENST00000447829.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2340,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000458009.7",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*984_*985delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000411066.2",
"strand": true,
"transcript": "ENST00000458009.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 763,
"aa_ref": "S",
"aa_start": 702,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2543,
"cdna_start": 2165,
"cds_end": null,
"cds_length": 2292,
"cds_start": 2104,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931189.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.2104_2105delTCinsCT",
"hgvs_p": "p.Ser702Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601248.1",
"strand": true,
"transcript": "ENST00000931189.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 755,
"aa_ref": "S",
"aa_start": 694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 2141,
"cds_end": null,
"cds_length": 2268,
"cds_start": 2080,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948704.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.2080_2081delTCinsCT",
"hgvs_p": "p.Ser694Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618763.1",
"strand": true,
"transcript": "ENST00000948704.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 725,
"aa_ref": "S",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2401,
"cdna_start": 2020,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354628.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1990_1991delTCinsCT",
"hgvs_p": "p.Ser664Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341557.1",
"strand": true,
"transcript": "NM_001354628.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 725,
"aa_ref": "S",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2447,
"cdna_start": 2066,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000616768.6",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1990_1991delTCinsCT",
"hgvs_p": "p.Ser664Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480669.3",
"strand": true,
"transcript": "ENST00000616768.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 723,
"aa_ref": "S",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2395,
"cdna_start": 2014,
"cds_end": null,
"cds_length": 2172,
"cds_start": 1984,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354629.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1984_1985delTCinsCT",
"hgvs_p": "p.Ser662Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341558.1",
"strand": true,
"transcript": "NM_001354629.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 723,
"aa_ref": "S",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": 1990,
"cds_end": null,
"cds_length": 2172,
"cds_start": 1984,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713802.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1984_1985delTCinsCT",
"hgvs_p": "p.Ser662Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519108.1",
"strand": true,
"transcript": "ENST00000713802.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 701,
"aa_ref": "S",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2329,
"cdna_start": 1948,
"cds_end": null,
"cds_length": 2106,
"cds_start": 1918,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354630.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1918_1919delTCinsCT",
"hgvs_p": "p.Ser640Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341559.1",
"strand": true,
"transcript": "NM_001354630.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 701,
"aa_ref": "S",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 2240,
"cds_end": null,
"cds_length": 2106,
"cds_start": 1918,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000673673.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1918_1919delTCinsCT",
"hgvs_p": "p.Ser640Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500979.2",
"strand": true,
"transcript": "ENST00000673673.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 658,
"aa_ref": "S",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2716,
"cdna_start": 2335,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1789,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001167617.3",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
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