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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: 10-78035630-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=78035630&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 78035630,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000372360.9",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.189T>C",
"hgvs_p": "p.His63His",
"transcript": "NM_033022.4",
"protein_id": "NP_148982.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 130,
"cds_start": 189,
"cds_end": null,
"cds_length": 393,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 534,
"mane_select": "ENST00000372360.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.189T>C",
"hgvs_p": "p.His63His",
"transcript": "ENST00000372360.9",
"protein_id": "ENSP00000361435.4",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 130,
"cds_start": 189,
"cds_end": null,
"cds_length": 393,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 534,
"mane_select": "NM_033022.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.189T>C",
"hgvs_p": "p.His63His",
"transcript": "ENST00000360830.9",
"protein_id": "ENSP00000354074.5",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 131,
"cds_start": 189,
"cds_end": null,
"cds_length": 396,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.189T>C",
"hgvs_p": "p.His63His",
"transcript": "ENST00000435275.5",
"protein_id": "ENSP00000415549.1",
"transcript_support_level": 2,
"aa_start": 63,
"aa_end": null,
"aa_length": 131,
"cds_start": 189,
"cds_end": null,
"cds_length": 396,
"cdna_start": 331,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "n.228T>C",
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.189T>C",
"hgvs_p": "p.His63His",
"transcript": "NM_001142285.2",
"protein_id": "NP_001135757.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 289,
"cds_start": 189,
"cds_end": null,
"cds_length": 870,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.189T>C",
"hgvs_p": "p.His63His",
"transcript": "ENST00000440692.6",
"protein_id": "ENSP00000414321.1",
"transcript_support_level": 3,
"aa_start": 63,
"aa_end": null,
"aa_length": 289,
"cds_start": 189,
"cds_end": null,
"cds_length": 870,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.189T>C",
"hgvs_p": "p.His63His",
"transcript": "NM_001026.5",
"protein_id": "NP_001017.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 133,
"cds_start": 189,
"cds_end": null,
"cds_length": 402,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.189T>C",
"hgvs_p": "p.His63His",
"transcript": "ENST00000613865.5",
"protein_id": "ENSP00000478869.2",
"transcript_support_level": 5,
"aa_start": 63,
"aa_end": null,
"aa_length": 133,
"cds_start": 189,
"cds_end": null,
"cds_length": 402,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.189T>C",
"hgvs_p": "p.His63His",
"transcript": "NM_001142283.2",
"protein_id": "NP_001135755.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 132,
"cds_start": 189,
"cds_end": null,
"cds_length": 399,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.189T>C",
"hgvs_p": "p.His63His",
"transcript": "ENST00000464716.6",
"protein_id": "ENSP00000494231.1",
"transcript_support_level": 2,
"aa_start": 63,
"aa_end": null,
"aa_length": 132,
"cds_start": 189,
"cds_end": null,
"cds_length": 399,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.189T>C",
"hgvs_p": "p.His63His",
"transcript": "NM_001142282.2",
"protein_id": "NP_001135754.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 131,
"cds_start": 189,
"cds_end": null,
"cds_length": 396,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.189T>C",
"hgvs_p": "p.His63His",
"transcript": "NM_001142284.2",
"protein_id": "NP_001135756.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 131,
"cds_start": 189,
"cds_end": null,
"cds_length": 396,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.189T>C",
"hgvs_p": "p.His63His",
"transcript": "ENST00000645440.1",
"protein_id": "ENSP00000496738.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 131,
"cds_start": 189,
"cds_end": null,
"cds_length": 396,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "c.63T>C",
"hgvs_p": "p.His21His",
"transcript": "ENST00000645195.1",
"protein_id": "ENSP00000496620.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 89,
"cds_start": 63,
"cds_end": null,
"cds_length": 270,
"cdna_start": 65,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "n.200T>C",
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "n.205T>C",
"hgvs_p": null,
"transcript": "ENST00000466129.6",
"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": 1104,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "n.599T>C",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "n.189T>C",
"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,
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"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "n.256T>C",
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "n.228T>C",
"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,
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"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "n.217T>C",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"hgvs_c": "n.398T>C",
"hgvs_p": null,
"transcript": "ENST00000646254.1",
"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": 605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RPS24",
"gene_hgnc_id": 10411,
"dbsnp": "rs201805132",
"frequency_reference_population": 0.00013903734,
"hom_count_reference_population": 0,
"allele_count_reference_population": 224,
"gnomad_exomes_af": 0.000135045,
"gnomad_genomes_af": 0.000177282,
"gnomad_exomes_ac": 197,
"gnomad_genomes_ac": 27,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5600000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.92,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000372360.9",
"gene_symbol": "RPS24",
"hgnc_id": 10411,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.189T>C",
"hgvs_p": "p.His63His"
}
],
"clinvar_disease": "Diamond-Blackfan anemia,RPS24-related disorder,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "not specified|Diamond-Blackfan anemia|RPS24-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}