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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: 1-61683516-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=61683516&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TM2D1",
"hgnc_id": 24142,
"hgvs_c": "c.544A>T",
"hgvs_p": "p.Ile182Phe",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_032027.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 155,
"alphamissense_prediction": null,
"alphamissense_score": 0.7902,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.34,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5432969331741333,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 207,
"aa_ref": "I",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 969,
"cdna_start": 565,
"cds_end": null,
"cds_length": 624,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_032027.3",
"gene_hgnc_id": 24142,
"gene_symbol": "TM2D1",
"hgvs_c": "c.544A>T",
"hgvs_p": "p.Ile182Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000606498.5",
"protein_coding": true,
"protein_id": "NP_114416.1",
"strand": false,
"transcript": "NM_032027.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 207,
"aa_ref": "I",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 969,
"cdna_start": 565,
"cds_end": null,
"cds_length": 624,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000606498.5",
"gene_hgnc_id": 24142,
"gene_symbol": "TM2D1",
"hgvs_c": "c.544A>T",
"hgvs_p": "p.Ile182Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032027.3",
"protein_coding": true,
"protein_id": "ENSP00000475700.1",
"strand": false,
"transcript": "ENST00000606498.5",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 207,
"aa_ref": "I",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1248,
"cdna_start": 847,
"cds_end": null,
"cds_length": 624,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000371180.7",
"gene_hgnc_id": 24142,
"gene_symbol": "TM2D1",
"hgvs_c": "c.544A>T",
"hgvs_p": "p.Ile182Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360222.2",
"strand": false,
"transcript": "ENST00000371180.7",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 268,
"aa_ref": "I",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1147,
"cdna_start": 748,
"cds_end": null,
"cds_length": 807,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964149.1",
"gene_hgnc_id": 24142,
"gene_symbol": "TM2D1",
"hgvs_c": "c.727A>T",
"hgvs_p": "p.Ile243Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634208.1",
"strand": false,
"transcript": "ENST00000964149.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 262,
"aa_ref": "I",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1132,
"cdna_start": 730,
"cds_end": null,
"cds_length": 789,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000855760.1",
"gene_hgnc_id": 24142,
"gene_symbol": "TM2D1",
"hgvs_c": "c.709A>T",
"hgvs_p": "p.Ile237Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525819.1",
"strand": false,
"transcript": "ENST00000855760.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 242,
"aa_ref": "I",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1056,
"cdna_start": 654,
"cds_end": null,
"cds_length": 729,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000922032.1",
"gene_hgnc_id": 24142,
"gene_symbol": "TM2D1",
"hgvs_c": "c.649A>T",
"hgvs_p": "p.Ile217Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592091.1",
"strand": false,
"transcript": "ENST00000922032.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 207,
"aa_ref": "I",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 946,
"cdna_start": 565,
"cds_end": null,
"cds_length": 624,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000855758.1",
"gene_hgnc_id": 24142,
"gene_symbol": "TM2D1",
"hgvs_c": "c.544A>T",
"hgvs_p": "p.Ile182Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525817.1",
"strand": false,
"transcript": "ENST00000855758.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 207,
"aa_ref": "I",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 676,
"cdna_start": 555,
"cds_end": null,
"cds_length": 624,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000922031.1",
"gene_hgnc_id": 24142,
"gene_symbol": "TM2D1",
"hgvs_c": "c.544A>T",
"hgvs_p": "p.Ile182Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592090.1",
"strand": false,
"transcript": "ENST00000922031.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 207,
"aa_ref": "I",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 662,
"cdna_start": 553,
"cds_end": null,
"cds_length": 624,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964150.1",
"gene_hgnc_id": 24142,
"gene_symbol": "TM2D1",
"hgvs_c": "c.544A>T",
"hgvs_p": "p.Ile182Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634209.1",
"strand": false,
"transcript": "ENST00000964150.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 205,
"aa_ref": "I",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 962,
"cdna_start": 559,
"cds_end": null,
"cds_length": 618,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964148.1",
"gene_hgnc_id": 24142,
"gene_symbol": "TM2D1",
"hgvs_c": "c.538A>T",
"hgvs_p": "p.Ile180Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634207.1",
"strand": false,
"transcript": "ENST00000964148.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 202,
"aa_ref": "I",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 955,
"cdna_start": 550,
"cds_end": null,
"cds_length": 609,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000855759.1",
"gene_hgnc_id": 24142,
"gene_symbol": "TM2D1",
"hgvs_c": "c.529A>T",
"hgvs_p": "p.Ile177Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525818.1",
"strand": false,
"transcript": "ENST00000855759.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 140,
"aa_ref": "I",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 766,
"cdna_start": 362,
"cds_end": null,
"cds_length": 423,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000922030.1",
"gene_hgnc_id": 24142,
"gene_symbol": "TM2D1",
"hgvs_c": "c.343A>T",
"hgvs_p": "p.Ile115Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592089.1",
"strand": false,
"transcript": "ENST00000922030.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 109,
"aa_ref": "I",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 660,
"cdna_start": 257,
"cds_end": null,
"cds_length": 330,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000855761.1",
"gene_hgnc_id": 24142,
"gene_symbol": "TM2D1",
"hgvs_c": "c.250A>T",
"hgvs_p": "p.Ile84Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525820.1",
"strand": false,
"transcript": "ENST00000855761.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 262,
"aa_ref": "I",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1134,
"cdna_start": 730,
"cds_end": null,
"cds_length": 789,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047431744.1",
"gene_hgnc_id": 24142,
"gene_symbol": "TM2D1",
"hgvs_c": "c.709A>T",
"hgvs_p": "p.Ile237Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287700.1",
"strand": false,
"transcript": "XM_047431744.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 262,
"aa_ref": "I",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 834,
"cdna_start": 730,
"cds_end": null,
"cds_length": 789,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047431745.1",
"gene_hgnc_id": 24142,
"gene_symbol": "TM2D1",
"hgvs_c": "c.709A>T",
"hgvs_p": "p.Ile237Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287701.1",
"strand": false,
"transcript": "XM_047431745.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 277,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 964,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047431743.1",
"gene_hgnc_id": 24142,
"gene_symbol": "TM2D1",
"hgvs_c": "c.*5A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287699.1",
"strand": false,
"transcript": "XM_047431743.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 637,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000468586.5",
"gene_hgnc_id": 24142,
"gene_symbol": "TM2D1",
"hgvs_c": "n.*458A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000475186.1",
"strand": false,
"transcript": "ENST00000468586.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 744,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000472357.1",
"gene_hgnc_id": 24142,
"gene_symbol": "TM2D1",
"hgvs_c": "n.342A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000472357.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 531,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000472989.5",
"gene_hgnc_id": 24142,
"gene_symbol": "TM2D1",
"hgvs_c": "n.287A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000472989.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 921,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000488206.5",
"gene_hgnc_id": 24142,
"gene_symbol": "TM2D1",
"hgvs_c": "n.*402A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476178.1",
"strand": false,
"transcript": "ENST00000488206.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 476,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000488410.5",
"gene_hgnc_id": 24142,
"gene_symbol": "TM2D1",
"hgvs_c": "n.412A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
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