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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: 5-179798424-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=179798424&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 179798424,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000292591.12",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ser478Leu",
"transcript": "NM_014275.5",
"protein_id": "NP_055090.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 548,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": "ENST00000292591.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ser478Leu",
"transcript": "ENST00000292591.12",
"protein_id": "ENSP00000292591.7",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 548,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": "NM_014275.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Ser302Leu",
"transcript": "ENST00000518778.5",
"protein_id": "ENSP00000428906.1",
"transcript_support_level": 1,
"aa_start": 302,
"aa_end": null,
"aa_length": 372,
"cds_start": 905,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 1568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.1035C>T",
"hgvs_p": "p.Val345Val",
"transcript": "ENST00000519836.5",
"protein_id": "ENSP00000430721.1",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 428,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.1478C>T",
"hgvs_p": "p.Ser493Leu",
"transcript": "NM_054013.3",
"protein_id": "NP_463459.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 563,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 2904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.1478C>T",
"hgvs_p": "p.Ser493Leu",
"transcript": "ENST00000337755.9",
"protein_id": "ENSP00000338487.5",
"transcript_support_level": 2,
"aa_start": 493,
"aa_end": null,
"aa_length": 563,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 2365,
"cdna_end": null,
"cdna_length": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Ser258Leu",
"transcript": "ENST00000520875.5",
"protein_id": "ENSP00000430723.1",
"transcript_support_level": 5,
"aa_start": 258,
"aa_end": null,
"aa_length": 320,
"cds_start": 773,
"cds_end": null,
"cds_length": 963,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ser169Leu",
"transcript": "ENST00000520969.5",
"protein_id": "ENSP00000428960.1",
"transcript_support_level": 3,
"aa_start": 169,
"aa_end": null,
"aa_length": 239,
"cds_start": 506,
"cds_end": null,
"cds_length": 720,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 1096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Ser333Leu",
"transcript": "XM_024454349.2",
"protein_id": "XP_024310117.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 403,
"cds_start": 998,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 4867,
"cdna_end": null,
"cdna_length": 5516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Val223Val",
"transcript": "ENST00000518980.5",
"protein_id": "ENSP00000431093.1",
"transcript_support_level": 5,
"aa_start": 223,
"aa_end": null,
"aa_length": 306,
"cds_start": 669,
"cds_end": null,
"cds_length": 921,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.714C>T",
"hgvs_p": "p.Val238Val",
"transcript": "ENST00000518867.5",
"protein_id": "ENSP00000428764.1",
"transcript_support_level": 5,
"aa_start": 238,
"aa_end": null,
"aa_length": 242,
"cds_start": 714,
"cds_end": null,
"cds_length": 731,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "n.334C>T",
"hgvs_p": null,
"transcript": "ENST00000522451.5",
"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": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "n.588C>T",
"hgvs_p": null,
"transcript": "ENST00000523382.5",
"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": 778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "n.461+80C>T",
"hgvs_p": null,
"transcript": "ENST00000522293.5",
"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": 759,
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR1229",
"gene_hgnc_id": 33924,
"hgvs_c": "n.-78C>T",
"hgvs_p": null,
"transcript": "ENST00000408467.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 69,
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR1229",
"gene_hgnc_id": 33924,
"hgvs_c": "n.-78C>T",
"hgvs_p": null,
"transcript": "NR_031598.1",
"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": 69,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR1229",
"gene_hgnc_id": 33924,
"hgvs_c": "n.-124C>T",
"hgvs_p": null,
"transcript": "unassigned_transcript_910",
"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": 23,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR1229",
"gene_hgnc_id": 33924,
"hgvs_c": "n.-78C>T",
"hgvs_p": null,
"transcript": "unassigned_transcript_911",
"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": 24,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"dbsnp": null,
"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": 0.17421835660934448,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.051,
"revel_prediction": "Benign",
"alphamissense_score": 0.0707,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.047,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000292591.12",
"gene_symbol": "MGAT4B",
"hgnc_id": 7048,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ser478Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_031598.1",
"gene_symbol": "MIR1229",
"hgnc_id": 33924,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-78C>T",
"hgvs_p": null
}
],
"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
}