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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: 5-10461287-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=10461287&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 10461287,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_031916.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROPN1L",
"gene_hgnc_id": 24060,
"hgvs_c": "c.521A>C",
"hgvs_p": "p.Tyr174Ser",
"transcript": "NM_031916.5",
"protein_id": "NP_114122.2",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 230,
"cds_start": 521,
"cds_end": null,
"cds_length": 693,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 1061,
"mane_select": "ENST00000274134.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031916.5"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROPN1L",
"gene_hgnc_id": 24060,
"hgvs_c": "c.521A>C",
"hgvs_p": "p.Tyr174Ser",
"transcript": "ENST00000274134.5",
"protein_id": "ENSP00000274134.4",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 230,
"cds_start": 521,
"cds_end": null,
"cds_length": 693,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 1061,
"mane_select": "NM_031916.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274134.5"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROPN1L",
"gene_hgnc_id": 24060,
"hgvs_c": "c.521A>C",
"hgvs_p": "p.Tyr174Ser",
"transcript": "NM_001201466.2",
"protein_id": "NP_001188395.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 230,
"cds_start": 521,
"cds_end": null,
"cds_length": 693,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201466.2"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROPN1L",
"gene_hgnc_id": 24060,
"hgvs_c": "c.521A>C",
"hgvs_p": "p.Tyr174Ser",
"transcript": "ENST00000503804.5",
"protein_id": "ENSP00000421405.1",
"transcript_support_level": 2,
"aa_start": 174,
"aa_end": null,
"aa_length": 230,
"cds_start": 521,
"cds_end": null,
"cds_length": 693,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 1291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503804.5"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROPN1L",
"gene_hgnc_id": 24060,
"hgvs_c": "c.521A>C",
"hgvs_p": "p.Tyr174Ser",
"transcript": "XM_006714504.4",
"protein_id": "XP_006714567.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 257,
"cds_start": 521,
"cds_end": null,
"cds_length": 774,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 1236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714504.4"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROPN1L",
"gene_hgnc_id": 24060,
"hgvs_c": "c.521A>C",
"hgvs_p": "p.Tyr174Ser",
"transcript": "XM_017009946.3",
"protein_id": "XP_016865435.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 232,
"cds_start": 521,
"cds_end": null,
"cds_length": 699,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009946.3"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROPN1L",
"gene_hgnc_id": 24060,
"hgvs_c": "c.521A>C",
"hgvs_p": "p.Tyr174Ser",
"transcript": "XM_047417808.1",
"protein_id": "XP_047273764.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 232,
"cds_start": 521,
"cds_end": null,
"cds_length": 699,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 3224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417808.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROPN1L",
"gene_hgnc_id": 24060,
"hgvs_c": "c.521A>C",
"hgvs_p": "p.Tyr174Ser",
"transcript": "XM_017009947.3",
"protein_id": "XP_016865436.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 220,
"cds_start": 521,
"cds_end": null,
"cds_length": 663,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009947.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROPN1L",
"gene_hgnc_id": 24060,
"hgvs_c": "n.813A>C",
"hgvs_p": null,
"transcript": "ENST00000510520.5",
"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": 1105,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000510520.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROPN1L",
"gene_hgnc_id": 24060,
"hgvs_c": "n.608A>C",
"hgvs_p": null,
"transcript": "ENST00000512022.1",
"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": 859,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000512022.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROPN1L",
"gene_hgnc_id": 24060,
"hgvs_c": "n.612A>C",
"hgvs_p": null,
"transcript": "ENST00000515762.5",
"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": 794,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000515762.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROPN1L",
"gene_hgnc_id": 24060,
"hgvs_c": "n.698A>C",
"hgvs_p": null,
"transcript": "ENST00000718289.1",
"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": 1276,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000718289.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROPN1L",
"gene_hgnc_id": 24060,
"hgvs_c": "n.791A>C",
"hgvs_p": null,
"transcript": "ENST00000718291.1",
"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": 1294,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000718291.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROPN1L",
"gene_hgnc_id": 24060,
"hgvs_c": "n.775A>C",
"hgvs_p": null,
"transcript": "ENST00000718292.1",
"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": 1857,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000718292.1"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ROPN1L",
"gene_hgnc_id": 24060,
"hgvs_c": "n.699+11174A>C",
"hgvs_p": null,
"transcript": "ENST00000718290.1",
"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": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000718290.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124900940",
"gene_hgnc_id": null,
"hgvs_c": "c.-2683A>C",
"hgvs_p": null,
"transcript": "XM_047417967.1",
"protein_id": "XP_047273923.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": null,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417967.1"
}
],
"gene_symbol": "ROPN1L",
"gene_hgnc_id": 24060,
"dbsnp": "rs776702691",
"frequency_reference_population": 0.0000013681182,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136812,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8767576813697815,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.431,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8051,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.617,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_031916.5",
"gene_symbol": "ROPN1L",
"hgnc_id": 24060,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.521A>C",
"hgvs_p": "p.Tyr174Ser"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XM_047417967.1",
"gene_symbol": "LOC124900940",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-2683A>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}