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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: 11-35434598-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=35434598&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 35434598,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015430.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1540A>G",
"hgvs_p": "p.Met514Val",
"transcript": "NM_001001991.3",
"protein_id": "NP_001001991.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 720,
"cds_start": 1540,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": "ENST00000619888.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001991.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1540A>G",
"hgvs_p": "p.Met514Val",
"transcript": "ENST00000619888.5",
"protein_id": "ENSP00000483703.1",
"transcript_support_level": 1,
"aa_start": 514,
"aa_end": null,
"aa_length": 720,
"cds_start": 1540,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": "NM_001001991.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619888.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1591A>G",
"hgvs_p": "p.Met531Val",
"transcript": "ENST00000622144.4",
"protein_id": "ENSP00000482899.1",
"transcript_support_level": 1,
"aa_start": 531,
"aa_end": null,
"aa_length": 737,
"cds_start": 1591,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622144.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1591A>G",
"hgvs_p": "p.Met531Val",
"transcript": "NM_015430.4",
"protein_id": "NP_056245.2",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 737,
"cds_start": 1591,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1622,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015430.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1561A>G",
"hgvs_p": "p.Met521Val",
"transcript": "ENST00000953162.1",
"protein_id": "ENSP00000623221.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 727,
"cds_start": 1561,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 2859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953162.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1420A>G",
"hgvs_p": "p.Met474Val",
"transcript": "NM_001282675.2",
"protein_id": "NP_001269604.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 680,
"cds_start": 1420,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282675.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1420A>G",
"hgvs_p": "p.Met474Val",
"transcript": "ENST00000621476.4",
"protein_id": "ENSP00000480961.1",
"transcript_support_level": 2,
"aa_start": 474,
"aa_end": null,
"aa_length": 680,
"cds_start": 1420,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 2842,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621476.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1471A>G",
"hgvs_p": "p.Met491Val",
"transcript": "ENST00000527605.5",
"protein_id": "ENSP00000432591.1",
"transcript_support_level": 5,
"aa_start": 491,
"aa_end": null,
"aa_length": 674,
"cds_start": 1471,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 2402,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527605.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1378A>G",
"hgvs_p": "p.Met460Val",
"transcript": "ENST00000953164.1",
"protein_id": "ENSP00000623223.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 666,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953164.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1375A>G",
"hgvs_p": "p.Met459Val",
"transcript": "ENST00000953163.1",
"protein_id": "ENSP00000623222.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 665,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953163.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1327A>G",
"hgvs_p": "p.Met443Val",
"transcript": "ENST00000903468.1",
"protein_id": "ENSP00000573527.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 649,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903468.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1285A>G",
"hgvs_p": "p.Met429Val",
"transcript": "ENST00000903469.1",
"protein_id": "ENSP00000573528.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 635,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 2565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903469.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1207A>G",
"hgvs_p": "p.Met403Val",
"transcript": "NM_001282676.2",
"protein_id": "NP_001269605.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 609,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282676.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "c.1207A>G",
"hgvs_p": "p.Met403Val",
"transcript": "ENST00000615849.4",
"protein_id": "ENSP00000479260.1",
"transcript_support_level": 2,
"aa_start": 403,
"aa_end": null,
"aa_length": 609,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1653,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615849.4"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"hgvs_c": "n.530A>G",
"hgvs_p": null,
"transcript": "ENST00000531219.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 560,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000531219.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC1A2-AS2",
"gene_hgnc_id": 40535,
"hgvs_c": "n.146+15491T>C",
"hgvs_p": null,
"transcript": "ENST00000844059.1",
"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": 329,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000844059.1"
}
],
"gene_symbol": "PAMR1",
"gene_hgnc_id": 24554,
"dbsnp": "rs550753385",
"frequency_reference_population": 0.000036552698,
"hom_count_reference_population": 0,
"allele_count_reference_population": 59,
"gnomad_exomes_af": 0.0000396747,
"gnomad_genomes_af": 0.00000656953,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04521706700325012,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.34,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0459,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.083,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_015430.4",
"gene_symbol": "PAMR1",
"hgnc_id": 24554,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1591A>G",
"hgvs_p": "p.Met531Val"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000844059.1",
"gene_symbol": "SLC1A2-AS2",
"hgnc_id": 40535,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.146+15491T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}