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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: 9-72250787-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=72250787&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GDA",
"hgnc_id": 4212,
"hgvs_c": "c.1399C>T",
"hgvs_p": "p.Pro467Ser",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001242505.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_score": -12,
"allele_count_reference_population": 40396,
"alphamissense_prediction": null,
"alphamissense_score": 0.0708,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.78,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.003783881664276123,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 471,
"aa_ref": "P",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2074,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000238018.8",
"gene_hgnc_id": 4212,
"gene_symbol": "GDA",
"hgvs_c": "c.1399C>T",
"hgvs_p": "p.Pro467Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000238018.4",
"strand": true,
"transcript": "ENST00000238018.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 454,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5367,
"cdna_start": null,
"cds_end": null,
"cds_length": 1365,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_004293.5",
"gene_hgnc_id": 4212,
"gene_symbol": "GDA",
"hgvs_c": "c.*2445C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358399.8",
"protein_coding": true,
"protein_id": "NP_004284.1",
"strand": true,
"transcript": "NM_004293.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 454,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5367,
"cdna_start": null,
"cds_end": null,
"cds_length": 1365,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000358399.8",
"gene_hgnc_id": 4212,
"gene_symbol": "GDA",
"hgvs_c": "c.*2445C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004293.5",
"protein_coding": true,
"protein_id": "ENSP00000351170.4",
"strand": true,
"transcript": "ENST00000358399.8",
"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": 2019,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000475764.5",
"gene_hgnc_id": 4212,
"gene_symbol": "GDA",
"hgvs_c": "n.*102C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436619.1",
"strand": true,
"transcript": "ENST00000475764.5",
"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": 2019,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000475764.5",
"gene_hgnc_id": 4212,
"gene_symbol": "GDA",
"hgvs_c": "n.*102C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436619.1",
"strand": true,
"transcript": "ENST00000475764.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 471,
"aa_ref": "P",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1986,
"cdna_start": 1519,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001242505.3",
"gene_hgnc_id": 4212,
"gene_symbol": "GDA",
"hgvs_c": "c.1399C>T",
"hgvs_p": "p.Pro467Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229434.1",
"strand": true,
"transcript": "NM_001242505.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 471,
"aa_ref": "P",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1896,
"cdna_start": 1519,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001351572.2",
"gene_hgnc_id": 4212,
"gene_symbol": "GDA",
"hgvs_c": "c.1399C>T",
"hgvs_p": "p.Pro467Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338501.1",
"strand": true,
"transcript": "NM_001351572.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 393,
"aa_ref": "P",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1771,
"cdna_start": 1394,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000376986.5",
"gene_hgnc_id": 4212,
"gene_symbol": "GDA",
"hgvs_c": "c.1165C>T",
"hgvs_p": "p.Pro389Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366185.1",
"strand": true,
"transcript": "ENST00000376986.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 179,
"aa_ref": "P",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 990,
"cdna_start": 523,
"cds_end": null,
"cds_length": 540,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000436438.1",
"gene_hgnc_id": 4212,
"gene_symbol": "GDA",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Pro175Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400857.1",
"strand": true,
"transcript": "ENST00000436438.1",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "P",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 1633,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1513,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011519213.3",
"gene_hgnc_id": 4212,
"gene_symbol": "GDA",
"hgvs_c": "c.1513C>T",
"hgvs_p": "p.Pro505Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517515.1",
"strand": true,
"transcript": "XM_011519213.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "P",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3070,
"cdna_start": 1633,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1513,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011519222.3",
"gene_hgnc_id": 4212,
"gene_symbol": "GDA",
"hgvs_c": "c.1513C>T",
"hgvs_p": "p.Pro505Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517524.1",
"strand": true,
"transcript": "XM_011519222.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 478,
"aa_ref": "P",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2927,
"cdna_start": 1490,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1420,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047424101.1",
"gene_hgnc_id": 4212,
"gene_symbol": "GDA",
"hgvs_c": "c.1420C>T",
"hgvs_p": "p.Pro474Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280057.1",
"strand": true,
"transcript": "XM_047424101.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 471,
"aa_ref": "P",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2956,
"cdna_start": 1519,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_005252317.3",
"gene_hgnc_id": 4212,
"gene_symbol": "GDA",
"hgvs_c": "c.1399C>T",
"hgvs_p": "p.Pro467Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005252374.1",
"strand": true,
"transcript": "XM_005252317.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 469,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3285,
"cdna_start": 1848,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1393,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_011519218.3",
"gene_hgnc_id": 4212,
"gene_symbol": "GDA",
"hgvs_c": "c.1393C>T",
"hgvs_p": "p.Pro465Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517520.1",
"strand": true,
"transcript": "XM_011519218.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 469,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3479,
"cdna_start": 2042,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1393,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047424102.1",
"gene_hgnc_id": 4212,
"gene_symbol": "GDA",
"hgvs_c": "c.1393C>T",
"hgvs_p": "p.Pro465Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280058.1",
"strand": true,
"transcript": "XM_047424102.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 467,
"aa_ref": "P",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3066,
"cdna_start": 1629,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1387,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011519219.2",
"gene_hgnc_id": 4212,
"gene_symbol": "GDA",
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Pro463Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517521.1",
"strand": true,
"transcript": "XM_011519219.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 449,
"aa_ref": "P",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3139,
"cdna_start": 1702,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_017015338.2",
"gene_hgnc_id": 4212,
"gene_symbol": "GDA",
"hgvs_c": "c.1333C>T",
"hgvs_p": "p.Pro445Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870827.1",
"strand": true,
"transcript": "XM_017015338.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 449,
"aa_ref": "P",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3135,
"cdna_start": 1698,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047424104.1",
"gene_hgnc_id": 4212,
"gene_symbol": "GDA",
"hgvs_c": "c.1333C>T",
"hgvs_p": "p.Pro445Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280060.1",
"strand": true,
"transcript": "XM_047424104.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 435,
"aa_ref": "P",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3049,
"cdna_start": 1612,
"cds_end": null,
"cds_length": 1308,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047424109.1",
"gene_hgnc_id": 4212,
"gene_symbol": "GDA",
"hgvs_c": "c.1291C>T",
"hgvs_p": "p.Pro431Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280065.1",
"strand": true,
"transcript": "XM_047424109.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 429,
"aa_ref": "P",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2952,
"cdna_start": 1515,
"cds_end": null,
"cds_length": 1290,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011519220.2",
"gene_hgnc_id": 4212,
"gene_symbol": "GDA",
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Pro425Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517522.1",
"strand": true,
"transcript": "XM_011519220.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 429,
"aa_ref": "P",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1982,
"cdna_start": 1515,
"cds_end": null,
"cds_length": 1290,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047424106.1",
"gene_hgnc_id": 4212,
"gene_symbol": "GDA",
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Pro425Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280062.1",
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