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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: 17-59057033-C-CATCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=59057033&ref=C&alt=CATCT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "TRIM37",
"hgnc_id": 7523,
"hgvs_c": "c.1037_1040dupAGAT",
"hgvs_p": "p.Met347fs",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001353084.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CATCT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Mulibrey nanism syndrome",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "ID?",
"aa_end": null,
"aa_length": 964,
"aa_ref": "M",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4489,
"cdna_start": 1459,
"cds_end": null,
"cds_length": 2895,
"cds_start": 1040,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_015294.6",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1037_1040dupAGAT",
"hgvs_p": "p.Met347fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262294.12",
"protein_coding": true,
"protein_id": "NP_056109.1",
"strand": false,
"transcript": "NM_015294.6",
"transcript_support_level": null
},
{
"aa_alt": "ID?",
"aa_end": null,
"aa_length": 964,
"aa_ref": "M",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4489,
"cdna_start": 1459,
"cds_end": null,
"cds_length": 2895,
"cds_start": 1040,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000262294.12",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1037_1040dupAGAT",
"hgvs_p": "p.Met347fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015294.6",
"protein_coding": true,
"protein_id": "ENSP00000262294.7",
"strand": false,
"transcript": "ENST00000262294.12",
"transcript_support_level": 1
},
{
"aa_alt": "ID?",
"aa_end": null,
"aa_length": 964,
"aa_ref": "M",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3622,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 2895,
"cds_start": 1040,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000393066.7",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1037_1040dupAGAT",
"hgvs_p": "p.Met347fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376785.3",
"strand": false,
"transcript": "ENST00000393066.7",
"transcript_support_level": 1
},
{
"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": 4310,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000577554.5",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "n.*909_*912dupAGAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462340.1",
"strand": false,
"transcript": "ENST00000577554.5",
"transcript_support_level": 1
},
{
"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": 4310,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000577554.5",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "n.*909_*912dupAGAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462340.1",
"strand": false,
"transcript": "ENST00000577554.5",
"transcript_support_level": 1
},
{
"aa_alt": "ID?",
"aa_end": null,
"aa_length": 981,
"aa_ref": "M",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4386,
"cdna_start": 1362,
"cds_end": null,
"cds_length": 2946,
"cds_start": 1091,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000938636.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1088_1091dupAGAT",
"hgvs_p": "p.Met364fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608695.1",
"strand": false,
"transcript": "ENST00000938636.1",
"transcript_support_level": null
},
{
"aa_alt": "ID?",
"aa_end": null,
"aa_length": 980,
"aa_ref": "M",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4365,
"cdna_start": 1317,
"cds_end": null,
"cds_length": 2943,
"cds_start": 1061,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000964654.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1058_1061dupAGAT",
"hgvs_p": "p.Met354fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634713.1",
"strand": false,
"transcript": "ENST00000964654.1",
"transcript_support_level": null
},
{
"aa_alt": "ID?",
"aa_end": null,
"aa_length": 973,
"aa_ref": "M",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4516,
"cdna_start": 1459,
"cds_end": null,
"cds_length": 2922,
"cds_start": 1040,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001353084.2",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1037_1040dupAGAT",
"hgvs_p": "p.Met347fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340013.1",
"strand": false,
"transcript": "NM_001353084.2",
"transcript_support_level": null
},
{
"aa_alt": "ID?",
"aa_end": null,
"aa_length": 973,
"aa_ref": "M",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4496,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 2922,
"cds_start": 1040,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000885247.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1037_1040dupAGAT",
"hgvs_p": "p.Met347fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555306.1",
"strand": false,
"transcript": "ENST00000885247.1",
"transcript_support_level": null
},
{
"aa_alt": "ID?",
"aa_end": null,
"aa_length": 968,
"aa_ref": "M",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4476,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 2907,
"cds_start": 1052,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000964648.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1049_1052dupAGAT",
"hgvs_p": "p.Met351fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634707.1",
"strand": false,
"transcript": "ENST00000964648.1",
"transcript_support_level": null
},
{
"aa_alt": "ID?",
"aa_end": null,
"aa_length": 964,
"aa_ref": "M",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3583,
"cdna_start": 1459,
"cds_end": null,
"cds_length": 2895,
"cds_start": 1040,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001005207.5",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1037_1040dupAGAT",
"hgvs_p": "p.Met347fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005207.1",
"strand": false,
"transcript": "NM_001005207.5",
"transcript_support_level": null
},
{
"aa_alt": "ID?",
"aa_end": null,
"aa_length": 956,
"aa_ref": "M",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4316,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 2871,
"cds_start": 989,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000885260.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.986_989dupAGAT",
"hgvs_p": "p.Met330fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555319.1",
"strand": false,
"transcript": "ENST00000885260.1",
"transcript_support_level": null
},
{
"aa_alt": "ID?",
"aa_end": null,
"aa_length": 947,
"aa_ref": "M",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4438,
"cdna_start": 1408,
"cds_end": null,
"cds_length": 2844,
"cds_start": 989,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001353086.2",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.986_989dupAGAT",
"hgvs_p": "p.Met330fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340015.1",
"strand": false,
"transcript": "NM_001353086.2",
"transcript_support_level": null
},
{
"aa_alt": "ID?",
"aa_end": null,
"aa_length": 947,
"aa_ref": "M",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4448,
"cdna_start": 1417,
"cds_end": null,
"cds_length": 2844,
"cds_start": 989,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000885243.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.986_989dupAGAT",
"hgvs_p": "p.Met330fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555302.1",
"strand": false,
"transcript": "ENST00000885243.1",
"transcript_support_level": null
},
{
"aa_alt": "ID?",
"aa_end": null,
"aa_length": 943,
"aa_ref": "M",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4408,
"cdna_start": 1378,
"cds_end": null,
"cds_length": 2832,
"cds_start": 977,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000885246.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.974_977dupAGAT",
"hgvs_p": "p.Met326fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555305.1",
"strand": false,
"transcript": "ENST00000885246.1",
"transcript_support_level": null
},
{
"aa_alt": "ID?",
"aa_end": null,
"aa_length": 939,
"aa_ref": "M",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4414,
"cdna_start": 1357,
"cds_end": null,
"cds_length": 2820,
"cds_start": 938,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001353082.2",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.935_938dupAGAT",
"hgvs_p": "p.Met313fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340011.1",
"strand": false,
"transcript": "NM_001353082.2",
"transcript_support_level": null
},
{
"aa_alt": "ID?",
"aa_end": null,
"aa_length": 939,
"aa_ref": "M",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4274,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 2820,
"cds_start": 938,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000885256.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.935_938dupAGAT",
"hgvs_p": "p.Met313fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555315.1",
"strand": false,
"transcript": "ENST00000885256.1",
"transcript_support_level": null
},
{
"aa_alt": "ID?",
"aa_end": null,
"aa_length": 930,
"aa_ref": "M",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4387,
"cdna_start": 1357,
"cds_end": null,
"cds_length": 2793,
"cds_start": 938,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001320987.3",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.935_938dupAGAT",
"hgvs_p": "p.Met313fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307916.1",
"strand": false,
"transcript": "NM_001320987.3",
"transcript_support_level": null
},
{
"aa_alt": "ID?",
"aa_end": null,
"aa_length": 930,
"aa_ref": "M",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3548,
"cdna_start": 1303,
"cds_end": null,
"cds_length": 2793,
"cds_start": 938,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000393065.6",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.935_938dupAGAT",
"hgvs_p": "p.Met313fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376784.2",
"strand": false,
"transcript": "ENST00000393065.6",
"transcript_support_level": 2
},
{
"aa_alt": "ID?",
"aa_end": null,
"aa_length": 930,
"aa_ref": "M",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4260,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 2793,
"cds_start": 1040,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000885250.1",
"gene_hgnc_id": 7523,
"gene_symbol": "TRIM37",
"hgvs_c": "c.1037_1040dupAGAT",
"hgvs_p": "p.Met347fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555309.1",
"strand": false,
"transcript": "ENST00000885250.1",
"transcript_support_level": null
},
{
"aa_alt": "ID?",
"aa_end": null,
"aa_length": 925,
"aa_ref": "M",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4372,
"cdna_start": 1459,
"cds_end": null,
"cds_length": 2778,
"cds_start": 1040,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001320988.3",
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