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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: 1-42758962-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=42758962&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 42758962,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001243246.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.830A>T",
"hgvs_p": "p.Asn277Ile",
"transcript": "NM_022356.4",
"protein_id": "NP_071751.3",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 736,
"cds_start": 830,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": "ENST00000296388.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022356.4"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.830A>T",
"hgvs_p": "p.Asn277Ile",
"transcript": "ENST00000296388.10",
"protein_id": "ENSP00000296388.5",
"transcript_support_level": 1,
"aa_start": 277,
"aa_end": null,
"aa_length": 736,
"cds_start": 830,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": "NM_022356.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296388.10"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.830A>T",
"hgvs_p": "p.Asn277Ile",
"transcript": "ENST00000397054.7",
"protein_id": "ENSP00000380245.3",
"transcript_support_level": 1,
"aa_start": 277,
"aa_end": null,
"aa_length": 697,
"cds_start": 830,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397054.7"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1154A>T",
"hgvs_p": "p.Asn385Ile",
"transcript": "ENST00000907902.1",
"protein_id": "ENSP00000577961.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 844,
"cds_start": 1154,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907902.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.830A>T",
"hgvs_p": "p.Asn277Ile",
"transcript": "NM_001243246.2",
"protein_id": "NP_001230175.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 804,
"cds_start": 830,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 3010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243246.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.830A>T",
"hgvs_p": "p.Asn277Ile",
"transcript": "ENST00000236040.8",
"protein_id": "ENSP00000236040.4",
"transcript_support_level": 2,
"aa_start": 277,
"aa_end": null,
"aa_length": 804,
"cds_start": 830,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 2993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000236040.8"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.830A>T",
"hgvs_p": "p.Asn277Ile",
"transcript": "ENST00000907901.1",
"protein_id": "ENSP00000577960.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 803,
"cds_start": 830,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 2824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907901.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.830A>T",
"hgvs_p": "p.Asn277Ile",
"transcript": "ENST00000964923.1",
"protein_id": "ENSP00000634982.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 793,
"cds_start": 830,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964923.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.830A>T",
"hgvs_p": "p.Asn277Ile",
"transcript": "ENST00000928449.1",
"protein_id": "ENSP00000598508.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 770,
"cds_start": 830,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 2697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928449.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.830A>T",
"hgvs_p": "p.Asn277Ile",
"transcript": "ENST00000907903.1",
"protein_id": "ENSP00000577962.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 756,
"cds_start": 830,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907903.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.677A>T",
"hgvs_p": "p.Asn226Ile",
"transcript": "ENST00000928451.1",
"protein_id": "ENSP00000598510.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 752,
"cds_start": 677,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928451.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.815A>T",
"hgvs_p": "p.Asn272Ile",
"transcript": "ENST00000928450.1",
"protein_id": "ENSP00000598509.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 731,
"cds_start": 815,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928450.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.830A>T",
"hgvs_p": "p.Asn277Ile",
"transcript": "ENST00000928452.1",
"protein_id": "ENSP00000598511.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 726,
"cds_start": 830,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928452.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.830A>T",
"hgvs_p": "p.Asn277Ile",
"transcript": "ENST00000907904.1",
"protein_id": "ENSP00000577963.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 706,
"cds_start": 830,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 2468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907904.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.830A>T",
"hgvs_p": "p.Asn277Ile",
"transcript": "NM_001146289.2",
"protein_id": "NP_001139761.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 697,
"cds_start": 830,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 2610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146289.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.677A>T",
"hgvs_p": "p.Asn226Ile",
"transcript": "ENST00000907905.1",
"protein_id": "ENSP00000577964.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 685,
"cds_start": 677,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907905.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.830A>T",
"hgvs_p": "p.Asn277Ile",
"transcript": "XM_047427616.1",
"protein_id": "XP_047283572.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 803,
"cds_start": 830,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 2792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427616.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "n.848A>T",
"hgvs_p": null,
"transcript": "ENST00000460031.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000460031.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "n.296A>T",
"hgvs_p": null,
"transcript": "ENST00000463465.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 897,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000463465.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "n.881A>T",
"hgvs_p": null,
"transcript": "ENST00000495874.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000495874.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "n.887A>T",
"hgvs_p": null,
"transcript": "XR_946739.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1432,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_946739.3"
}
],
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"dbsnp": "rs200403014",
"frequency_reference_population": 6.8405444e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84054e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4033600389957428,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.082,
"revel_prediction": "Benign",
"alphamissense_score": 0.2297,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.016,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001243246.2",
"gene_symbol": "P3H1",
"hgnc_id": 19316,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.830A>T",
"hgvs_p": "p.Asn277Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}