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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: 8-124488694-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=124488694&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 124488694,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001317889.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.794A>G",
"hgvs_p": "p.Gln265Arg",
"transcript": "NM_032026.4",
"protein_id": "NP_114415.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 297,
"cds_start": 794,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000276692.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032026.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.794A>G",
"hgvs_p": "p.Gln265Arg",
"transcript": "ENST00000276692.11",
"protein_id": "ENSP00000276692.6",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 297,
"cds_start": 794,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032026.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276692.11"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.653A>G",
"hgvs_p": "p.Gln218Arg",
"transcript": "ENST00000519548.5",
"protein_id": "ENSP00000428336.1",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 250,
"cds_start": 653,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519548.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "n.*282A>G",
"hgvs_p": null,
"transcript": "ENST00000523214.5",
"protein_id": "ENSP00000428609.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000523214.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "n.*282A>G",
"hgvs_p": null,
"transcript": "ENST00000523214.5",
"protein_id": "ENSP00000428609.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000523214.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.902A>G",
"hgvs_p": "p.Gln301Arg",
"transcript": "NM_001317889.1",
"protein_id": "NP_001304818.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 333,
"cds_start": 902,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317889.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Gln300Arg",
"transcript": "ENST00000933709.1",
"protein_id": "ENSP00000603768.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 332,
"cds_start": 899,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933709.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.902A>G",
"hgvs_p": "p.Gln301Arg",
"transcript": "ENST00000522810.5",
"protein_id": "ENSP00000430274.1",
"transcript_support_level": 3,
"aa_start": 301,
"aa_end": null,
"aa_length": 321,
"cds_start": 902,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522810.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.842A>G",
"hgvs_p": "p.Gln281Arg",
"transcript": "ENST00000933710.1",
"protein_id": "ENSP00000603769.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 313,
"cds_start": 842,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933710.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.836A>G",
"hgvs_p": "p.Gln279Arg",
"transcript": "ENST00000866114.1",
"protein_id": "ENSP00000536173.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 311,
"cds_start": 836,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866114.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.788A>G",
"hgvs_p": "p.Gln263Arg",
"transcript": "ENST00000933707.1",
"protein_id": "ENSP00000603766.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 295,
"cds_start": 788,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933707.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.Gln240Arg",
"transcript": "ENST00000933711.1",
"protein_id": "ENSP00000603770.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 272,
"cds_start": 719,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933711.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.653A>G",
"hgvs_p": "p.Gln218Arg",
"transcript": "NM_001146160.1",
"protein_id": "NP_001139632.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 250,
"cds_start": 653,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146160.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.653A>G",
"hgvs_p": "p.Gln218Arg",
"transcript": "ENST00000933713.1",
"protein_id": "ENSP00000603772.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 250,
"cds_start": 653,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933713.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.650A>G",
"hgvs_p": "p.Gln217Arg",
"transcript": "ENST00000866113.1",
"protein_id": "ENSP00000536172.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 249,
"cds_start": 650,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866113.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.650A>G",
"hgvs_p": "p.Gln217Arg",
"transcript": "ENST00000933712.1",
"protein_id": "ENSP00000603771.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 249,
"cds_start": 650,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933712.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.Gln216Arg",
"transcript": "ENST00000933708.1",
"protein_id": "ENSP00000603767.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 248,
"cds_start": 647,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933708.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.632A>G",
"hgvs_p": "p.Gln211Arg",
"transcript": "NM_001317890.1",
"protein_id": "NP_001304819.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 243,
"cds_start": 632,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317890.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.632A>G",
"hgvs_p": "p.Gln211Arg",
"transcript": "ENST00000630259.1",
"protein_id": "ENSP00000487380.1",
"transcript_support_level": 5,
"aa_start": 211,
"aa_end": null,
"aa_length": 243,
"cds_start": 632,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630259.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.605A>G",
"hgvs_p": "p.Gln202Arg",
"transcript": "ENST00000933717.1",
"protein_id": "ENSP00000603776.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 234,
"cds_start": 605,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933717.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN1",
"gene_hgnc_id": 24220,
"hgvs_c": "c.590A>G",
"hgvs_p": "p.Gln197Arg",
"transcript": "ENST00000933716.1",
"protein_id": "ENSP00000603775.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 229,
"cds_start": 590,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933716.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6926,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.949,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001317889.1",
"gene_symbol": "TATDN1",
"hgnc_id": 24220,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.902A>G",
"hgvs_p": "p.Gln301Arg"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000518639.1",
"gene_symbol": "ENSG00000253106",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.185T>C",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007218.4",
"gene_symbol": "RNF139",
"hgnc_id": 17023,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.*1050T>C",
"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
}