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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: 13-75530239-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=75530239&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 75530239,
"ref": "T",
"alt": "C",
"effect": "start_lost",
"transcript": "NM_001287392.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD6",
"gene_hgnc_id": 24015,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Met28Val",
"transcript": "NM_203495.4",
"protein_id": "NP_987091.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 85,
"cds_start": 82,
"cds_end": null,
"cds_length": 258,
"cdna_start": 118,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": "ENST00000682242.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203495.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD6",
"gene_hgnc_id": 24015,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Met28Val",
"transcript": "ENST00000682242.1",
"protein_id": "ENSP00000506987.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 85,
"cds_start": 82,
"cds_end": null,
"cds_length": 258,
"cdna_start": 118,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": "NM_203495.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682242.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD6",
"gene_hgnc_id": 24015,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001287392.2",
"protein_id": "NP_001274321.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 58,
"cds_start": 1,
"cds_end": null,
"cds_length": 177,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287392.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD6",
"gene_hgnc_id": 24015,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001287393.2",
"protein_id": "NP_001274322.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 58,
"cds_start": 1,
"cds_end": null,
"cds_length": 177,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287393.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD6",
"gene_hgnc_id": 24015,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001287394.2",
"protein_id": "NP_001274323.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 58,
"cds_start": 1,
"cds_end": null,
"cds_length": 177,
"cdna_start": 145,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287394.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD6",
"gene_hgnc_id": 24015,
"hgvs_c": "c.127A>G",
"hgvs_p": "p.Met43Val",
"transcript": "ENST00000377619.9",
"protein_id": "ENSP00000366845.5",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 100,
"cds_start": 127,
"cds_end": null,
"cds_length": 303,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377619.9"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD6",
"gene_hgnc_id": 24015,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Met28Val",
"transcript": "NM_203497.4",
"protein_id": "NP_987093.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 98,
"cds_start": 82,
"cds_end": null,
"cds_length": 297,
"cdna_start": 118,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203497.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD6",
"gene_hgnc_id": 24015,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Met28Val",
"transcript": "ENST00000355801.4",
"protein_id": "ENSP00000348054.4",
"transcript_support_level": 2,
"aa_start": 28,
"aa_end": null,
"aa_length": 98,
"cds_start": 82,
"cds_end": null,
"cds_length": 297,
"cdna_start": 118,
"cdna_end": null,
"cdna_length": 486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355801.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD6",
"gene_hgnc_id": 24015,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Met28Val",
"transcript": "ENST00000377615.7",
"protein_id": "ENSP00000366841.3",
"transcript_support_level": 5,
"aa_start": 28,
"aa_end": null,
"aa_length": 85,
"cds_start": 82,
"cds_end": null,
"cds_length": 258,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 1793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377615.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD6",
"gene_hgnc_id": 24015,
"hgvs_c": "c.70A>G",
"hgvs_p": "p.Met24Val",
"transcript": "ENST00000915457.1",
"protein_id": "ENSP00000585516.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 81,
"cds_start": 70,
"cds_end": null,
"cds_length": 246,
"cdna_start": 151,
"cdna_end": null,
"cdna_length": 1071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915457.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD6",
"gene_hgnc_id": 24015,
"hgvs_c": "c.86A>G",
"hgvs_p": "p.Tyr29Cys",
"transcript": "ENST00000626103.1",
"protein_id": "ENSP00000485825.1",
"transcript_support_level": 5,
"aa_start": 29,
"aa_end": null,
"aa_length": 39,
"cds_start": 86,
"cds_end": null,
"cds_length": 120,
"cdna_start": 86,
"cdna_end": null,
"cdna_length": 120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626103.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COMMD6",
"gene_hgnc_id": 24015,
"hgvs_c": "c.55-3600A>G",
"hgvs_p": null,
"transcript": "ENST00000968746.1",
"protein_id": "ENSP00000638805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 34,
"cds_start": null,
"cds_end": null,
"cds_length": 105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968746.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "COMMD6",
"gene_hgnc_id": 24015,
"hgvs_c": "n.86A>G",
"hgvs_p": null,
"transcript": "ENST00000377612.8",
"protein_id": "ENSP00000366838.4",
"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": 580,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000377612.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD6",
"gene_hgnc_id": 24015,
"hgvs_c": "n.134A>G",
"hgvs_p": null,
"transcript": "ENST00000460675.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 463,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000460675.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "COMMD6",
"gene_hgnc_id": 24015,
"hgvs_c": "n.260A>G",
"hgvs_p": null,
"transcript": "ENST00000464050.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 790,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464050.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "COMMD6",
"gene_hgnc_id": 24015,
"hgvs_c": "n.322A>G",
"hgvs_p": null,
"transcript": "ENST00000471682.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 447,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471682.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "COMMD6",
"gene_hgnc_id": 24015,
"hgvs_c": "n.118A>G",
"hgvs_p": null,
"transcript": "ENST00000477377.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 533,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477377.1"
},
{
"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": "COMMD6",
"gene_hgnc_id": 24015,
"hgvs_c": "n.266A>G",
"hgvs_p": null,
"transcript": "ENST00000483290.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 595,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000483290.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COMMD6",
"gene_hgnc_id": 24015,
"hgvs_c": "n.170+72A>G",
"hgvs_p": null,
"transcript": "ENST00000486516.5",
"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": 374,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000486516.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COMMD6",
"gene_hgnc_id": 24015,
"hgvs_c": "n.188+72A>G",
"hgvs_p": null,
"transcript": "ENST00000497707.5",
"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": 392,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000497707.5"
}
],
"gene_symbol": "COMMD6",
"gene_hgnc_id": 24015,
"dbsnp": "rs199666944",
"frequency_reference_population": 0.00007815107,
"hom_count_reference_population": 1,
"allele_count_reference_population": 126,
"gnomad_exomes_af": 0.000081511,
"gnomad_genomes_af": 0.0000459511,
"gnomad_exomes_ac": 119,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04522654414176941,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.077,
"revel_prediction": "Benign",
"alphamissense_score": 0.1713,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.716,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Supporting",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PVS1_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001287392.2",
"gene_symbol": "COMMD6",
"hgnc_id": 24015,
"effects": [
"start_lost"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}