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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: 10-78037285-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=78037285&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 78037285,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000372360.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.371A>G",
"hgvs_p": "p.Asn124Ser",
"transcript": "NM_033022.4",
"protein_id": "NP_148982.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 130,
"cds_start": 371,
"cds_end": null,
"cds_length": 393,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 534,
"mane_select": "ENST00000372360.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.371A>G",
"hgvs_p": "p.Asn124Ser",
"transcript": "ENST00000372360.9",
"protein_id": "ENSP00000361435.4",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 130,
"cds_start": 371,
"cds_end": null,
"cds_length": 393,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 534,
"mane_select": "NM_033022.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.371A>G",
"hgvs_p": "p.Asn124Ser",
"transcript": "ENST00000360830.9",
"protein_id": "ENSP00000354074.5",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 131,
"cds_start": 371,
"cds_end": null,
"cds_length": 396,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.371A>G",
"hgvs_p": "p.Asn124Ser",
"transcript": "ENST00000435275.5",
"protein_id": "ENSP00000415549.1",
"transcript_support_level": 2,
"aa_start": 124,
"aa_end": null,
"aa_length": 131,
"cds_start": 371,
"cds_end": null,
"cds_length": 396,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 656,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "n.410A>G",
"hgvs_p": null,
"transcript": "ENST00000478655.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 1008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"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": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.371A>G",
"hgvs_p": "p.Asn124Ser",
"transcript": "NM_001142285.2",
"protein_id": "NP_001135757.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 289,
"cds_start": 371,
"cds_end": null,
"cds_length": 870,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"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": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.371A>G",
"hgvs_p": "p.Asn124Ser",
"transcript": "ENST00000440692.6",
"protein_id": "ENSP00000414321.1",
"transcript_support_level": 3,
"aa_start": 124,
"aa_end": null,
"aa_length": 289,
"cds_start": 371,
"cds_end": null,
"cds_length": 870,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"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": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.371A>G",
"hgvs_p": "p.Asn124Ser",
"transcript": "NM_001026.5",
"protein_id": "NP_001017.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 133,
"cds_start": 371,
"cds_end": null,
"cds_length": 402,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"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": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.371A>G",
"hgvs_p": "p.Asn124Ser",
"transcript": "ENST00000613865.5",
"protein_id": "ENSP00000478869.2",
"transcript_support_level": 5,
"aa_start": 124,
"aa_end": null,
"aa_length": 133,
"cds_start": 371,
"cds_end": null,
"cds_length": 402,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.371A>G",
"hgvs_p": "p.Asn124Ser",
"transcript": "NM_001142283.2",
"protein_id": "NP_001135755.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 132,
"cds_start": 371,
"cds_end": null,
"cds_length": 399,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.371A>G",
"hgvs_p": "p.Asn124Ser",
"transcript": "ENST00000464716.6",
"protein_id": "ENSP00000494231.1",
"transcript_support_level": 2,
"aa_start": 124,
"aa_end": null,
"aa_length": 132,
"cds_start": 371,
"cds_end": null,
"cds_length": 399,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.371A>G",
"hgvs_p": "p.Asn124Ser",
"transcript": "NM_001142282.2",
"protein_id": "NP_001135754.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 131,
"cds_start": 371,
"cds_end": null,
"cds_length": 396,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.371A>G",
"hgvs_p": "p.Asn124Ser",
"transcript": "NM_001142284.2",
"protein_id": "NP_001135756.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 131,
"cds_start": 371,
"cds_end": null,
"cds_length": 396,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.371A>G",
"hgvs_p": "p.Asn124Ser",
"transcript": "ENST00000645440.1",
"protein_id": "ENSP00000496738.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 131,
"cds_start": 371,
"cds_end": null,
"cds_length": 396,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.245A>G",
"hgvs_p": "p.Asn82Ser",
"transcript": "ENST00000645195.1",
"protein_id": "ENSP00000496620.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 89,
"cds_start": 245,
"cds_end": null,
"cds_length": 270,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 400,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "n.382A>G",
"hgvs_p": null,
"transcript": "ENST00000465692.2",
"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": 718,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "n.371A>G",
"hgvs_p": null,
"transcript": "ENST00000476545.6",
"protein_id": "ENSP00000494169.1",
"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": 806,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "n.438A>G",
"hgvs_p": null,
"transcript": "ENST00000482069.5",
"protein_id": null,
"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": 539,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "n.410A>G",
"hgvs_p": null,
"transcript": "ENST00000485708.7",
"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": 569,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "n.399A>G",
"hgvs_p": null,
"transcript": "ENST00000645698.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "n.*67A>G",
"hgvs_p": null,
"transcript": "ENST00000475468.6",
"protein_id": null,
"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": 714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"dbsnp": "rs147128920",
"frequency_reference_population": 0.00032909293,
"hom_count_reference_population": 1,
"allele_count_reference_population": 528,
"gnomad_exomes_af": 0.00028787,
"gnomad_genomes_af": 0.000721955,
"gnomad_exomes_ac": 418,
"gnomad_genomes_ac": 110,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.022485822439193726,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.068,
"revel_prediction": "Benign",
"alphamissense_score": 0.0535,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.469,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000372360.9",
"gene_symbol": "RPS24",
"hgnc_id": 10411,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.371A>G",
"hgvs_p": "p.Asn124Ser"
}
],
"clinvar_disease": "Diamond-Blackfan anemia,Diamond-Blackfan anemia 3,RPS24-related disorder,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Diamond-Blackfan anemia|Diamond-Blackfan anemia 3|not specified|RPS24-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}