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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: 7-23342074-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=23342074&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 23342074,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006547.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP3",
"gene_hgnc_id": 28868,
"hgvs_c": "c.1193C>T",
"hgvs_p": "p.Pro398Leu",
"transcript": "NM_006547.3",
"protein_id": "NP_006538.2",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 579,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 4274,
"mane_select": "ENST00000258729.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006547.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP3",
"gene_hgnc_id": 28868,
"hgvs_c": "c.1193C>T",
"hgvs_p": "p.Pro398Leu",
"transcript": "ENST00000258729.8",
"protein_id": "ENSP00000258729.3",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 579,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 4274,
"mane_select": "NM_006547.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258729.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "IGF2BP3",
"gene_hgnc_id": 28868,
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Pro17Leu",
"transcript": "ENST00000619562.4",
"protein_id": "ENSP00000480267.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 198,
"cds_start": 50,
"cds_end": null,
"cds_length": 597,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619562.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP3",
"gene_hgnc_id": 28868,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "XM_047419782.1",
"protein_id": "XP_047275738.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 634,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 4130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419782.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP3",
"gene_hgnc_id": 28868,
"hgvs_c": "c.1208C>T",
"hgvs_p": "p.Pro403Leu",
"transcript": "XM_011515089.3",
"protein_id": "XP_011513391.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 584,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 4289,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515089.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP3",
"gene_hgnc_id": 28868,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "XM_047419784.1",
"protein_id": "XP_047275740.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 582,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1377,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419784.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP3",
"gene_hgnc_id": 28868,
"hgvs_c": "c.914C>T",
"hgvs_p": "p.Pro305Leu",
"transcript": "XM_011515092.3",
"protein_id": "XP_011513394.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 486,
"cds_start": 914,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 3800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515092.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP3",
"gene_hgnc_id": 28868,
"hgvs_c": "c.914C>T",
"hgvs_p": "p.Pro305Leu",
"transcript": "XM_011515093.3",
"protein_id": "XP_011513395.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 486,
"cds_start": 914,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515093.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "IGF2BP3",
"gene_hgnc_id": 28868,
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Pro290Leu",
"transcript": "XM_011515090.4",
"protein_id": "XP_011513392.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 471,
"cds_start": 869,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 3676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515090.4"
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IGF2BP3",
"gene_hgnc_id": 28868,
"hgvs_c": "c.286-22820C>T",
"hgvs_p": null,
"transcript": "ENST00000922496.1",
"protein_id": "ENSP00000592555.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": null,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922496.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP3",
"gene_hgnc_id": 28868,
"hgvs_c": "n.*846C>T",
"hgvs_p": null,
"transcript": "ENST00000421467.6",
"protein_id": "ENSP00000395936.1",
"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": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000421467.6"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP3",
"gene_hgnc_id": 28868,
"hgvs_c": "n.452C>T",
"hgvs_p": null,
"transcript": "ENST00000467592.5",
"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": 600,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000467592.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP3",
"gene_hgnc_id": 28868,
"hgvs_c": "n.588C>T",
"hgvs_p": null,
"transcript": "ENST00000480547.5",
"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": 596,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000480547.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP3",
"gene_hgnc_id": 28868,
"hgvs_c": "n.530C>T",
"hgvs_p": null,
"transcript": "ENST00000497563.5",
"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": 657,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000497563.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP3",
"gene_hgnc_id": 28868,
"hgvs_c": "n.*846C>T",
"hgvs_p": null,
"transcript": "ENST00000421467.6",
"protein_id": "ENSP00000395936.1",
"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": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000421467.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGF2BP3",
"gene_hgnc_id": 28868,
"hgvs_c": "n.*22C>T",
"hgvs_p": null,
"transcript": "ENST00000495009.1",
"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": 452,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000495009.1"
}
],
"gene_symbol": "IGF2BP3",
"gene_hgnc_id": 28868,
"dbsnp": "rs138438351",
"frequency_reference_population": 0.00009879396,
"hom_count_reference_population": 0,
"allele_count_reference_population": 156,
"gnomad_exomes_af": 0.000102325,
"gnomad_genomes_af": 0.0000656961,
"gnomad_exomes_ac": 146,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02475374937057495,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.052,
"revel_prediction": "Benign",
"alphamissense_score": 0.1097,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.499,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_006547.3",
"gene_symbol": "IGF2BP3",
"hgnc_id": 28868,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1193C>T",
"hgvs_p": "p.Pro398Leu"
}
],
"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
}