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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: 1-19978510-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=19978510&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 19978510,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000300.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"hgvs_c": "c.55C>A",
"hgvs_p": "p.His19Asn",
"transcript": "NM_001395463.1",
"protein_id": "NP_001382392.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 144,
"cds_start": 55,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000482011.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395463.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"hgvs_c": "c.55C>A",
"hgvs_p": "p.His19Asn",
"transcript": "ENST00000482011.3",
"protein_id": "ENSP00000504762.1",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 144,
"cds_start": 55,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395463.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482011.3"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"hgvs_c": "c.55C>A",
"hgvs_p": "p.His19Asn",
"transcript": "ENST00000375111.7",
"protein_id": "ENSP00000364252.3",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 144,
"cds_start": 55,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375111.7"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"hgvs_c": "c.55C>A",
"hgvs_p": "p.His19Asn",
"transcript": "ENST00000400520.8",
"protein_id": "ENSP00000383364.3",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 144,
"cds_start": 55,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400520.8"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"hgvs_c": "c.55C>A",
"hgvs_p": "p.His19Asn",
"transcript": "ENST00000962622.1",
"protein_id": "ENSP00000632681.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 164,
"cds_start": 55,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962622.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"hgvs_c": "c.55C>A",
"hgvs_p": "p.His19Asn",
"transcript": "NM_000300.4",
"protein_id": "NP_000291.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 144,
"cds_start": 55,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000300.4"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"hgvs_c": "c.55C>A",
"hgvs_p": "p.His19Asn",
"transcript": "NM_001161727.2",
"protein_id": "NP_001155199.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 144,
"cds_start": 55,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161727.2"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"hgvs_c": "c.55C>A",
"hgvs_p": "p.His19Asn",
"transcript": "NM_001161728.2",
"protein_id": "NP_001155200.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 144,
"cds_start": 55,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161728.2"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"hgvs_c": "c.55C>A",
"hgvs_p": "p.His19Asn",
"transcript": "NM_001161729.1",
"protein_id": "NP_001155201.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 144,
"cds_start": 55,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161729.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"hgvs_c": "c.55C>A",
"hgvs_p": "p.His19Asn",
"transcript": "ENST00000907283.1",
"protein_id": "ENSP00000577343.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 144,
"cds_start": 55,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907283.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"hgvs_c": "c.55C>A",
"hgvs_p": "p.His19Asn",
"transcript": "ENST00000907285.1",
"protein_id": "ENSP00000577344.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 144,
"cds_start": 55,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907285.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"hgvs_c": "c.55C>A",
"hgvs_p": "p.His19Asn",
"transcript": "ENST00000907286.1",
"protein_id": "ENSP00000577345.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 144,
"cds_start": 55,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907286.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"hgvs_c": "c.55C>A",
"hgvs_p": "p.His19Asn",
"transcript": "ENST00000907287.1",
"protein_id": "ENSP00000577346.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 144,
"cds_start": 55,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907287.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"hgvs_c": "c.55C>A",
"hgvs_p": "p.His19Asn",
"transcript": "ENST00000932016.1",
"protein_id": "ENSP00000602075.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 144,
"cds_start": 55,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932016.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"hgvs_c": "c.55C>A",
"hgvs_p": "p.His19Asn",
"transcript": "ENST00000962623.1",
"protein_id": "ENSP00000632682.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 144,
"cds_start": 55,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962623.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"hgvs_c": "c.55C>A",
"hgvs_p": "p.His19Asn",
"transcript": "XM_047422593.1",
"protein_id": "XP_047278549.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 144,
"cds_start": 55,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422593.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"hgvs_c": "c.55C>A",
"hgvs_p": "p.His19Asn",
"transcript": "XM_047422594.1",
"protein_id": "XP_047278550.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 144,
"cds_start": 55,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422594.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"hgvs_c": "c.55C>A",
"hgvs_p": "p.His19Asn",
"transcript": "XM_047422595.1",
"protein_id": "XP_047278551.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 144,
"cds_start": 55,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422595.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"hgvs_c": "c.-1-26C>A",
"hgvs_p": null,
"transcript": "ENST00000649436.1",
"protein_id": "ENSP00000496912.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 117,
"cds_start": null,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649436.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"hgvs_c": "n.405C>A",
"hgvs_p": null,
"transcript": "ENST00000496748.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000496748.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"hgvs_c": "n.335-26C>A",
"hgvs_p": null,
"transcript": "ENST00000461140.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000461140.1"
}
],
"gene_symbol": "PLA2G2A",
"gene_hgnc_id": 9031,
"dbsnp": "rs11573162",
"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": 0.29174545407295227,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.2199999988079071,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.0844,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.463,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.22,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000300.4",
"gene_symbol": "PLA2G2A",
"hgnc_id": 9031,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.55C>A",
"hgvs_p": "p.His19Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}