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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: 1-39300268-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=39300268&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 39300268,
"ref": "C",
"alt": "G",
"effect": "stop_gained",
"transcript": "ENST00000564288.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.2540C>G",
"hgvs_p": "p.Ser847*",
"transcript": "NM_001394062.1",
"protein_id": "NP_001380991.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 7555,
"cds_start": 2540,
"cds_end": null,
"cds_length": 22668,
"cdna_start": 2868,
"cdna_end": null,
"cdna_length": 24340,
"mane_select": "ENST00000564288.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.2540C>G",
"hgvs_p": "p.Ser847*",
"transcript": "ENST00000564288.6",
"protein_id": "ENSP00000455274.1",
"transcript_support_level": 5,
"aa_start": 847,
"aa_end": null,
"aa_length": 7555,
"cds_start": 2540,
"cds_end": null,
"cds_length": 22668,
"cdna_start": 2868,
"cdna_end": null,
"cdna_length": 24340,
"mane_select": "NM_001394062.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.2651C>G",
"hgvs_p": "p.Ser884*",
"transcript": "ENST00000567887.5",
"protein_id": "ENSP00000455823.1",
"transcript_support_level": 5,
"aa_start": 884,
"aa_end": null,
"aa_length": 7592,
"cds_start": 2651,
"cds_end": null,
"cds_length": 22779,
"cdna_start": 2808,
"cdna_end": null,
"cdna_length": 24319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 96,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.2555C>G",
"hgvs_p": "p.Ser852*",
"transcript": "ENST00000372915.8",
"protein_id": "ENSP00000362006.4",
"transcript_support_level": 5,
"aa_start": 852,
"aa_end": null,
"aa_length": 7385,
"cds_start": 2555,
"cds_end": null,
"cds_length": 22158,
"cdna_start": 2642,
"cdna_end": null,
"cdna_length": 23431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.2555C>G",
"hgvs_p": "p.Ser852*",
"transcript": "NM_012090.5",
"protein_id": "NP_036222.3",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 5430,
"cds_start": 2555,
"cds_end": null,
"cds_length": 16293,
"cdna_start": 2607,
"cdna_end": null,
"cdna_length": 17689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 94,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.2555C>G",
"hgvs_p": "p.Ser852*",
"transcript": "ENST00000361689.7",
"protein_id": "ENSP00000354573.2",
"transcript_support_level": 5,
"aa_start": 852,
"aa_end": null,
"aa_length": 5430,
"cds_start": 2555,
"cds_end": null,
"cds_length": 16293,
"cdna_start": 2734,
"cdna_end": null,
"cdna_length": 17665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.2402C>G",
"hgvs_p": "p.Ser801*",
"transcript": "ENST00000671089.2",
"protein_id": "ENSP00000499399.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 5379,
"cds_start": 2402,
"cds_end": null,
"cds_length": 16140,
"cdna_start": 2502,
"cdna_end": null,
"cdna_length": 17433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.2387C>G",
"hgvs_p": "p.Ser796*",
"transcript": "ENST00000672812.1",
"protein_id": "ENSP00000499888.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 2145,
"cds_start": 2387,
"cds_end": null,
"cds_length": 6440,
"cdna_start": 2492,
"cdna_end": null,
"cdna_length": 6545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.3002C>G",
"hgvs_p": "p.Ser1001*",
"transcript": "ENST00000530262.5",
"protein_id": "ENSP00000437059.1",
"transcript_support_level": 5,
"aa_start": 1001,
"aa_end": null,
"aa_length": 2027,
"cds_start": 3002,
"cds_end": null,
"cds_length": 6086,
"cdna_start": 3173,
"cdna_end": null,
"cdna_length": 6257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.2429C>G",
"hgvs_p": "p.Ser810*",
"transcript": "ENST00000524432.5",
"protein_id": "ENSP00000435070.1",
"transcript_support_level": 5,
"aa_start": 810,
"aa_end": null,
"aa_length": 1374,
"cds_start": 2429,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 2642,
"cdna_end": null,
"cdna_length": 4338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.1151C>G",
"hgvs_p": "p.Ser384*",
"transcript": "ENST00000673706.1",
"protein_id": "ENSP00000501158.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 928,
"cds_start": 1151,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 2788,
"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": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.3041C>G",
"hgvs_p": null,
"transcript": "ENST00000496804.5",
"protein_id": "ENSP00000435078.1",
"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": 5065,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.1896C>G",
"hgvs_p": null,
"transcript": "ENST00000688822.1",
"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": 2603,
"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": 21,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.2392C>G",
"hgvs_p": null,
"transcript": "ENST00000693209.1",
"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": 5488,
"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": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.-47C>G",
"hgvs_p": null,
"transcript": "ENST00000372925.6",
"protein_id": "ENSP00000362016.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 4433,
"cds_start": -4,
"cds_end": null,
"cds_length": 13302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14496,
"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": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.-46C>G",
"hgvs_p": null,
"transcript": "ENST00000476350.1",
"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": 5304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"dbsnp": "rs1553231631",
"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": 0.6600000262260437,
"computational_prediction_selected": "Pathogenic",
"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": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000564288.6",
"gene_symbol": "MACF1",
"hgnc_id": 13664,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2540C>G",
"hgvs_p": "p.Ser847*"
}
],
"clinvar_disease": "Abnormal corpus callosum morphology",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Abnormal corpus callosum morphology",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}