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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: 16-1765963-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1765963&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1765963,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001318852.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.2450C>A",
"hgvs_p": "p.Ala817Asp",
"transcript": "NM_001318852.2",
"protein_id": "NP_001305781.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 1337,
"cds_start": 2450,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000610761.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318852.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.2450C>A",
"hgvs_p": "p.Ala817Asp",
"transcript": "ENST00000610761.2",
"protein_id": "ENSP00000481780.1",
"transcript_support_level": 1,
"aa_start": 817,
"aa_end": null,
"aa_length": 1337,
"cds_start": 2450,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001318852.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610761.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.2447C>A",
"hgvs_p": "p.Ala816Asp",
"transcript": "ENST00000250894.8",
"protein_id": "ENSP00000250894.4",
"transcript_support_level": 1,
"aa_start": 816,
"aa_end": null,
"aa_length": 1336,
"cds_start": 2447,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000250894.8"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.2471C>A",
"hgvs_p": "p.Ala824Asp",
"transcript": "ENST00000673691.1",
"protein_id": "ENSP00000501096.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 1344,
"cds_start": 2471,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673691.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.2447C>A",
"hgvs_p": "p.Ala816Asp",
"transcript": "NM_015133.5",
"protein_id": "NP_055948.2",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 1336,
"cds_start": 2447,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015133.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.2429C>A",
"hgvs_p": "p.Ala810Asp",
"transcript": "NM_001040439.2",
"protein_id": "NP_001035529.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 1330,
"cds_start": 2429,
"cds_end": null,
"cds_length": 3993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040439.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.2429C>A",
"hgvs_p": "p.Ala810Asp",
"transcript": "ENST00000356010.9",
"protein_id": "ENSP00000348290.5",
"transcript_support_level": 5,
"aa_start": 810,
"aa_end": null,
"aa_length": 1330,
"cds_start": 2429,
"cds_end": null,
"cds_length": 3993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356010.9"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.2474C>A",
"hgvs_p": "p.Ala825Asp",
"transcript": "XM_011522429.3",
"protein_id": "XP_011520731.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 1345,
"cds_start": 2474,
"cds_end": null,
"cds_length": 4038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522429.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.2456C>A",
"hgvs_p": "p.Ala819Asp",
"transcript": "XM_011522430.3",
"protein_id": "XP_011520732.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 1339,
"cds_start": 2456,
"cds_end": null,
"cds_length": 4020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522430.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.2447C>A",
"hgvs_p": "p.Ala816Asp",
"transcript": "XM_047433812.1",
"protein_id": "XP_047289768.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 1336,
"cds_start": 2447,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433812.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.2429C>A",
"hgvs_p": "p.Ala810Asp",
"transcript": "XM_047433813.1",
"protein_id": "XP_047289769.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 1330,
"cds_start": 2429,
"cds_end": null,
"cds_length": 3993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433813.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.2405C>A",
"hgvs_p": "p.Ala802Asp",
"transcript": "XM_005255190.3",
"protein_id": "XP_005255247.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 1322,
"cds_start": 2405,
"cds_end": null,
"cds_length": 3969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255190.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.1976C>A",
"hgvs_p": "p.Ala659Asp",
"transcript": "XM_047433814.1",
"protein_id": "XP_047289770.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 1179,
"cds_start": 1976,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433814.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.1970C>A",
"hgvs_p": "p.Ala657Asp",
"transcript": "XM_047433815.1",
"protein_id": "XP_047289771.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 1177,
"cds_start": 1970,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433815.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.1688C>A",
"hgvs_p": "p.Ala563Asp",
"transcript": "XM_047433816.1",
"protein_id": "XP_047289772.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 1083,
"cds_start": 1688,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433816.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.1202C>A",
"hgvs_p": "p.Ala401Asp",
"transcript": "XM_047433817.1",
"protein_id": "XP_047289773.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 921,
"cds_start": 1202,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433817.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "n.-209C>A",
"hgvs_p": null,
"transcript": "ENST00000567352.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000567352.1"
}
],
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"dbsnp": "rs1555458045",
"frequency_reference_population": 6.859322e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85932e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8701915740966797,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3100000023841858,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.428,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8665,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.267,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.31,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001318852.2",
"gene_symbol": "MAPK8IP3",
"hgnc_id": 6884,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2450C>A",
"hgvs_p": "p.Ala817Asp"
}
],
"clinvar_disease": " NEDBA,Neurodevelopmental disorder with or without variable brain abnormalities,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not provided|Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}