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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: 9-128218658-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128218658&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128218658,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000372923.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.312G>C",
"hgvs_p": "p.Glu104Asp",
"transcript": "NM_004408.4",
"protein_id": "NP_004399.2",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 864,
"cds_start": 312,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": "ENST00000372923.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.312G>C",
"hgvs_p": "p.Glu104Asp",
"transcript": "ENST00000372923.8",
"protein_id": "ENSP00000362014.4",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 864,
"cds_start": 312,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": "NM_004408.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.312G>C",
"hgvs_p": "p.Glu104Asp",
"transcript": "ENST00000486160.3",
"protein_id": "ENSP00000420045.1",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 864,
"cds_start": 312,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 3181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.312G>C",
"hgvs_p": "p.Glu104Asp",
"transcript": "ENST00000634267.2",
"protein_id": "ENSP00000489096.1",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 856,
"cds_start": 312,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 2909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.312G>C",
"hgvs_p": "p.Glu104Asp",
"transcript": "ENST00000341179.11",
"protein_id": "ENSP00000345680.7",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 851,
"cds_start": 312,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 3254,
"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": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "n.113G>C",
"hgvs_p": null,
"transcript": "ENST00000441149.6",
"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": 3286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.312G>C",
"hgvs_p": "p.Glu104Asp",
"transcript": "NM_001374269.1",
"protein_id": "NP_001361198.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 867,
"cds_start": 312,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 3862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.312G>C",
"hgvs_p": "p.Glu104Asp",
"transcript": "ENST00000706053.1",
"protein_id": "ENSP00000516205.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 867,
"cds_start": 312,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 3819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.312G>C",
"hgvs_p": "p.Glu104Asp",
"transcript": "NM_001288739.2",
"protein_id": "NP_001275668.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 864,
"cds_start": 312,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.312G>C",
"hgvs_p": "p.Glu104Asp",
"transcript": "ENST00000628346.2",
"protein_id": "ENSP00000486525.1",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 864,
"cds_start": 312,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 3835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.312G>C",
"hgvs_p": "p.Glu104Asp",
"transcript": "NM_001005336.3",
"protein_id": "NP_001005336.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 851,
"cds_start": 312,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 3254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.312G>C",
"hgvs_p": "p.Glu104Asp",
"transcript": "NM_001288737.2",
"protein_id": "NP_001275666.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 851,
"cds_start": 312,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 3254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.312G>C",
"hgvs_p": "p.Glu104Asp",
"transcript": "NM_001288738.2",
"protein_id": "NP_001275667.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 851,
"cds_start": 312,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 3899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.312G>C",
"hgvs_p": "p.Glu104Asp",
"transcript": "ENST00000393594.7",
"protein_id": "ENSP00000377219.3",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 851,
"cds_start": 312,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.312G>C",
"hgvs_p": "p.Glu104Asp",
"transcript": "ENST00000475805.5",
"protein_id": "ENSP00000419225.1",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 851,
"cds_start": 312,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.312G>C",
"hgvs_p": "p.Glu104Asp",
"transcript": "ENST00000627543.2",
"protein_id": "ENSP00000487310.1",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 851,
"cds_start": 312,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 4734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.312G>C",
"hgvs_p": "p.Glu104Asp",
"transcript": "ENST00000627061.2",
"protein_id": "ENSP00000486437.1",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 835,
"cds_start": 312,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 2724,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "n.312G>C",
"hgvs_p": null,
"transcript": "ENST00000636280.1",
"protein_id": "ENSP00000490285.1",
"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": 2462,
"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": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "n.138G>C",
"hgvs_p": null,
"transcript": "ENST00000637999.1",
"protein_id": "ENSP00000489985.1",
"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": 1429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.-55G>C",
"hgvs_p": null,
"transcript": "ENST00000706054.1",
"protein_id": "ENSP00000516206.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "n.-8G>C",
"hgvs_p": null,
"transcript": "ENST00000637094.1",
"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": 155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"dbsnp": "rs2229917",
"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": 0.8478925228118896,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.831,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9419,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.617,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "ENST00000372923.8",
"gene_symbol": "DNM1",
"hgnc_id": 2972,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.312G>C",
"hgvs_p": "p.Glu104Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}