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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: 3-179576824-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=179576824&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 179576824,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_004301.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.679G>C",
"hgvs_p": "p.Glu227Gln",
"transcript": "NM_004301.5",
"protein_id": "NP_004292.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 429,
"cds_start": 679,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000429709.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004301.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.679G>C",
"hgvs_p": "p.Glu227Gln",
"transcript": "ENST00000429709.7",
"protein_id": "ENSP00000397552.2",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 429,
"cds_start": 679,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004301.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429709.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.553G>C",
"hgvs_p": "p.Glu185Gln",
"transcript": "ENST00000450518.6",
"protein_id": "ENSP00000394014.2",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 387,
"cds_start": 553,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450518.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.673G>C",
"hgvs_p": "p.Glu225Gln",
"transcript": "ENST00000879836.1",
"protein_id": "ENSP00000549895.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 427,
"cds_start": 673,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879836.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.679G>C",
"hgvs_p": "p.Glu227Gln",
"transcript": "ENST00000941894.1",
"protein_id": "ENSP00000611953.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 424,
"cds_start": 679,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941894.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.679G>C",
"hgvs_p": "p.Glu227Gln",
"transcript": "ENST00000937856.1",
"protein_id": "ENSP00000607915.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 402,
"cds_start": 679,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937856.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.679G>C",
"hgvs_p": "p.Glu227Gln",
"transcript": "ENST00000879837.1",
"protein_id": "ENSP00000549896.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 400,
"cds_start": 679,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879837.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.583G>C",
"hgvs_p": "p.Glu195Gln",
"transcript": "ENST00000937854.1",
"protein_id": "ENSP00000607913.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 397,
"cds_start": 583,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937854.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.553G>C",
"hgvs_p": "p.Glu185Gln",
"transcript": "NM_177989.4",
"protein_id": "NP_817126.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 387,
"cds_start": 553,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177989.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.553G>C",
"hgvs_p": "p.Glu185Gln",
"transcript": "NM_178042.4",
"protein_id": "NP_829888.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 387,
"cds_start": 553,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178042.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.553G>C",
"hgvs_p": "p.Glu185Gln",
"transcript": "ENST00000392662.5",
"protein_id": "ENSP00000376430.1",
"transcript_support_level": 2,
"aa_start": 185,
"aa_end": null,
"aa_length": 387,
"cds_start": 553,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392662.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.526G>C",
"hgvs_p": "p.Glu176Gln",
"transcript": "ENST00000879835.1",
"protein_id": "ENSP00000549894.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 378,
"cds_start": 526,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879835.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.487G>C",
"hgvs_p": "p.Glu163Gln",
"transcript": "ENST00000937855.1",
"protein_id": "ENSP00000607914.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 365,
"cds_start": 487,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937855.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Glu135Gln",
"transcript": "ENST00000937853.1",
"protein_id": "ENSP00000607912.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 337,
"cds_start": 403,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937853.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "n.698G>C",
"hgvs_p": null,
"transcript": "ENST00000467615.5",
"protein_id": null,
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000467615.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "n.352G>C",
"hgvs_p": null,
"transcript": "ENST00000479056.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479056.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "n.*280G>C",
"hgvs_p": null,
"transcript": "ENST00000487978.5",
"protein_id": "ENSP00000420694.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000487978.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124909462",
"gene_hgnc_id": null,
"hgvs_c": "n.23C>G",
"hgvs_p": null,
"transcript": "XR_007096181.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007096181.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "n.*280G>C",
"hgvs_p": null,
"transcript": "ENST00000487978.5",
"protein_id": "ENSP00000420694.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000487978.5"
}
],
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"dbsnp": "rs1035631360",
"frequency_reference_population": 0.000027884738,
"hom_count_reference_population": 0,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.0000266813,
"gnomad_genomes_af": 0.0000394514,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.745784342288971,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9599999785423279,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.783,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4479,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.602,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.999891440370711,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_004301.5",
"gene_symbol": "ACTL6A",
"hgnc_id": 24124,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.679G>C",
"hgvs_p": "p.Glu227Gln"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007096181.1",
"gene_symbol": "LOC124909462",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.23C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Delayed speech and language development,Global developmental delay",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Global developmental delay;Delayed speech and language development",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}