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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: 7-97854625-T-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=97854625&ref=T&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 97854625,
"ref": "T",
"alt": "TA",
"effect": "frameshift_variant",
"transcript": "ENST00000394308.8",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1192dupT",
"hgvs_p": "p.Tyr398fs",
"transcript": "NM_001673.5",
"protein_id": "NP_001664.3",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 561,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": "ENST00000394308.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1192dupT",
"hgvs_p": "p.Tyr398fs",
"transcript": "ENST00000394308.8",
"protein_id": "ENSP00000377845.3",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 561,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": "NM_001673.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1192dupT",
"hgvs_p": "p.Tyr398fs",
"transcript": "ENST00000175506.8",
"protein_id": "ENSP00000175506.4",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 561,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1192dupT",
"hgvs_p": "p.Tyr398fs",
"transcript": "NM_001352496.2",
"protein_id": "NP_001339425.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 561,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1192dupT",
"hgvs_p": "p.Tyr398fs",
"transcript": "NM_133436.3",
"protein_id": "NP_597680.2",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 561,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 2334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1192dupT",
"hgvs_p": "p.Tyr398fs",
"transcript": "NM_183356.4",
"protein_id": "NP_899199.2",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 561,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1587,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1192dupT",
"hgvs_p": "p.Tyr398fs",
"transcript": "ENST00000394309.7",
"protein_id": "ENSP00000377846.3",
"transcript_support_level": 2,
"aa_start": 398,
"aa_end": null,
"aa_length": 561,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1129dupT",
"hgvs_p": "p.Tyr377fs",
"transcript": "NM_001178075.2",
"protein_id": "NP_001171546.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 540,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 2311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1129dupT",
"hgvs_p": "p.Tyr377fs",
"transcript": "ENST00000422745.5",
"protein_id": "ENSP00000414901.1",
"transcript_support_level": 5,
"aa_start": 377,
"aa_end": null,
"aa_length": 540,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1129dupT",
"hgvs_p": "p.Tyr377fs",
"transcript": "ENST00000444334.5",
"protein_id": "ENSP00000406994.1",
"transcript_support_level": 2,
"aa_start": 377,
"aa_end": null,
"aa_length": 540,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.943dupT",
"hgvs_p": "p.Tyr315fs",
"transcript": "NM_001178076.2",
"protein_id": "NP_001171547.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 478,
"cds_start": 943,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.943dupT",
"hgvs_p": "p.Tyr315fs",
"transcript": "NM_001178077.1",
"protein_id": "NP_001171548.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 478,
"cds_start": 943,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.943dupT",
"hgvs_p": "p.Tyr315fs",
"transcript": "ENST00000437628.5",
"protein_id": "ENSP00000414379.1",
"transcript_support_level": 2,
"aa_start": 315,
"aa_end": null,
"aa_length": 478,
"cds_start": 943,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.943dupT",
"hgvs_p": "p.Tyr315fs",
"transcript": "ENST00000455086.5",
"protein_id": "ENSP00000408472.1",
"transcript_support_level": 2,
"aa_start": 315,
"aa_end": null,
"aa_length": 478,
"cds_start": 943,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 1588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "n.*60dupT",
"hgvs_p": null,
"transcript": "ENST00000454046.5",
"protein_id": "ENSP00000401651.1",
"transcript_support_level": 5,
"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": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "n.250dupT",
"hgvs_p": null,
"transcript": "ENST00000487714.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284707",
"gene_hgnc_id": null,
"hgvs_c": "n.1442dupT",
"hgvs_p": null,
"transcript": "ENST00000641315.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ENSG00000284707",
"gene_hgnc_id": null,
"hgvs_c": "n.2146dupT",
"hgvs_p": null,
"transcript": "ENST00000641390.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ENSG00000284707",
"gene_hgnc_id": null,
"hgvs_c": "n.2678dupT",
"hgvs_p": null,
"transcript": "ENST00000641784.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CZ1P-ASNS",
"gene_hgnc_id": null,
"hgvs_c": "n.2895dupT",
"hgvs_p": null,
"transcript": "NR_147989.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "n.*60dupT",
"hgvs_p": null,
"transcript": "ENST00000454046.5",
"protein_id": "ENSP00000401651.1",
"transcript_support_level": 5,
"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": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"dbsnp": "rs773348232",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0.00000205223,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.123,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.13,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000394308.8",
"gene_symbol": "ASNS",
"hgnc_id": 753,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1192dupT",
"hgvs_p": "p.Tyr398fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NR_147989.1",
"gene_symbol": "CZ1P-ASNS",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2895dupT",
"hgvs_p": null
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000641315.1",
"gene_symbol": "ENSG00000284707",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1442dupT",
"hgvs_p": null
}
],
"clinvar_disease": "Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "not provided|Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}