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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: 7-75981098-G-GTACGTGGACAAGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=75981098&ref=G&alt=GTACGTGGACAAGC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 75981098,
"ref": "G",
"alt": "GTACGTGGACAAGC",
"effect": "frameshift_variant",
"transcript": "ENST00000461988.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "LRGQA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.559_571dupTACGTGGACAAGC",
"hgvs_p": "p.Arg191fs",
"transcript": "NM_001395413.1",
"protein_id": "NP_001382342.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 677,
"cds_start": 572,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": "ENST00000461988.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "LRGQA?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.559_571dupTACGTGGACAAGC",
"hgvs_p": "p.Arg191fs",
"transcript": "ENST00000461988.6",
"protein_id": "ENSP00000419970.2",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 677,
"cds_start": 572,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": "NM_001395413.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "LRGQA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.718_730dupTACGTGGACAAGC",
"hgvs_p": "p.Arg244fs",
"transcript": "ENST00000447222.5",
"protein_id": "ENSP00000393527.1",
"transcript_support_level": 5,
"aa_start": 244,
"aa_end": null,
"aa_length": 724,
"cds_start": 731,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 2332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "LRGQA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.613_625dupTACGTGGACAAGC",
"hgvs_p": "p.Arg209fs",
"transcript": "NM_001382655.3",
"protein_id": "NP_001369584.2",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 695,
"cds_start": 626,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "LRGQA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.568_580dupTACGTGGACAAGC",
"hgvs_p": "p.Arg194fs",
"transcript": "ENST00000706545.1",
"protein_id": "ENSP00000516443.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 680,
"cds_start": 581,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "LRGQA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.568_580dupTACGTGGACAAGC",
"hgvs_p": "p.Arg194fs",
"transcript": "ENST00000706546.1",
"protein_id": "ENSP00000516444.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 680,
"cds_start": 581,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "LRGQA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.568_580dupTACGTGGACAAGC",
"hgvs_p": "p.Arg194fs",
"transcript": "ENST00000706547.1",
"protein_id": "ENSP00000516445.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 680,
"cds_start": 581,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "LRGQA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.559_571dupTACGTGGACAAGC",
"hgvs_p": "p.Arg191fs",
"transcript": "NM_001367562.3",
"protein_id": "NP_001354491.2",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 677,
"cds_start": 572,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "LRGQA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.559_571dupTACGTGGACAAGC",
"hgvs_p": "p.Arg191fs",
"transcript": "NM_001382657.2",
"protein_id": "NP_001369586.2",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 677,
"cds_start": 572,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 2544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "LRGQA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.559_571dupTACGTGGACAAGC",
"hgvs_p": "p.Arg191fs",
"transcript": "NM_001382658.3",
"protein_id": "NP_001369587.2",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 677,
"cds_start": 572,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 2919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "LRGQA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.559_571dupTACGTGGACAAGC",
"hgvs_p": "p.Arg191fs",
"transcript": "NM_001382659.3",
"protein_id": "NP_001369588.2",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 677,
"cds_start": 572,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "LRGQA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.568_580dupTACGTGGACAAGC",
"hgvs_p": "p.Arg194fs",
"transcript": "ENST00000706544.1",
"protein_id": "ENSP00000516442.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 647,
"cds_start": 581,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "LRGQA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.559_571dupTACGTGGACAAGC",
"hgvs_p": "p.Arg191fs",
"transcript": "ENST00000394893.5",
"protein_id": "ENSP00000378355.2",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 630,
"cds_start": 572,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 2532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "LRGQA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.559_571dupTACGTGGACAAGC",
"hgvs_p": "p.Arg191fs",
"transcript": "NM_001382662.3",
"protein_id": "NP_001369591.2",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 627,
"cds_start": 572,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "LRGQA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.343_355dupTACGTGGACAAGC",
"hgvs_p": "p.Arg119fs",
"transcript": "ENST00000475509.2",
"protein_id": "ENSP00000516446.1",
"transcript_support_level": 5,
"aa_start": 119,
"aa_end": null,
"aa_length": 605,
"cds_start": 356,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 2605,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "n.168_180dupTACGTGGACAAGC",
"hgvs_p": null,
"transcript": "ENST00000460892.1",
"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": 603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "n.557+2_557+14dupTACGTGGACAAGC",
"hgvs_p": null,
"transcript": "ENST00000412064.6",
"protein_id": "ENSP00000404731.3",
"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": 1044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "n.508-418_508-406dupTACGTGGACAAGC",
"hgvs_p": null,
"transcript": "ENST00000454934.5",
"protein_id": "ENSP00000414263.2",
"transcript_support_level": 3,
"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": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.*2_*3insTACGTGGACAAGC",
"hgvs_p": null,
"transcript": "ENST00000439963.5",
"protein_id": "ENSP00000390540.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": -4,
"cds_end": null,
"cds_length": 556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"dbsnp": "rs786205878",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"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": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.076,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PVS1",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000461988.6",
"gene_symbol": "POR",
"hgnc_id": 9208,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.559_571dupTACGTGGACAAGC",
"hgvs_p": "p.Arg191fs"
}
],
"clinvar_disease": "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}