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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: 5-179800053-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=179800053&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 179800053,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000292591.12",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Val271Met",
"transcript": "NM_014275.5",
"protein_id": "NP_055090.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 548,
"cds_start": 811,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": "ENST00000292591.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Val271Met",
"transcript": "ENST00000292591.12",
"protein_id": "ENSP00000292591.7",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 548,
"cds_start": 811,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": "NM_014275.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.652G>A",
"hgvs_p": "p.Val218Met",
"transcript": "ENST00000519836.5",
"protein_id": "ENSP00000430721.1",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 428,
"cds_start": 652,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Val96Met",
"transcript": "ENST00000518778.5",
"protein_id": "ENSP00000428906.1",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 372,
"cds_start": 286,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 1568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Val286Met",
"transcript": "NM_054013.3",
"protein_id": "NP_463459.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 563,
"cds_start": 856,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 2904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Val286Met",
"transcript": "ENST00000337755.9",
"protein_id": "ENSP00000338487.5",
"transcript_support_level": 2,
"aa_start": 286,
"aa_end": null,
"aa_length": 563,
"cds_start": 856,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1743,
"cdna_end": null,
"cdna_length": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Val69Met",
"transcript": "ENST00000520875.5",
"protein_id": "ENSP00000430723.1",
"transcript_support_level": 5,
"aa_start": 69,
"aa_end": null,
"aa_length": 320,
"cds_start": 205,
"cds_end": null,
"cds_length": 963,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Val80Met",
"transcript": "ENST00000518980.5",
"protein_id": "ENSP00000431093.1",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 306,
"cds_start": 238,
"cds_end": null,
"cds_length": 921,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Val82Met",
"transcript": "ENST00000518867.5",
"protein_id": "ENSP00000428764.1",
"transcript_support_level": 5,
"aa_start": 82,
"aa_end": null,
"aa_length": 242,
"cds_start": 244,
"cds_end": null,
"cds_length": 731,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000523108.5",
"protein_id": "ENSP00000427995.1",
"transcript_support_level": 5,
"aa_start": 126,
"aa_end": null,
"aa_length": 199,
"cds_start": 376,
"cds_end": null,
"cds_length": 600,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 1080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "XM_024454349.2",
"protein_id": "XP_024310117.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 403,
"cds_start": 376,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 4245,
"cdna_end": null,
"cdna_length": 5516,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "n.297G>A",
"hgvs_p": null,
"transcript": "ENST00000518702.5",
"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": 542,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "n.198G>A",
"hgvs_p": null,
"transcript": "ENST00000520822.5",
"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": 745,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "n.*248G>A",
"hgvs_p": null,
"transcript": "ENST00000520918.5",
"protein_id": "ENSP00000430376.1",
"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": 799,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "n.264G>A",
"hgvs_p": null,
"transcript": "ENST00000521855.1",
"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": 593,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "n.309G>A",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"hgvs_c": "n.*248G>A",
"hgvs_p": null,
"transcript": "ENST00000520918.5",
"protein_id": "ENSP00000430376.1",
"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": 799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MGAT4B",
"gene_hgnc_id": 7048,
"dbsnp": "rs780334156",
"frequency_reference_population": 0.000002736607,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273661,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3282785415649414,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.197,
"revel_prediction": "Benign",
"alphamissense_score": 0.3759,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.033,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000292591.12",
"gene_symbol": "MGAT4B",
"hgnc_id": 7048,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Val271Met"
}
],
"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
}