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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: 7-75112506-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=75112506&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GTF2IRD2B",
"hgnc_id": 33125,
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Thr232Met",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001368302.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0763,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03265693783760071,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 949,
"aa_ref": "T",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3551,
"cdna_start": 390,
"cds_end": null,
"cds_length": 2850,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001003795.3",
"gene_hgnc_id": 33125,
"gene_symbol": "GTF2IRD2B",
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Thr70Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000472837.7",
"protein_coding": true,
"protein_id": "NP_001003795.1",
"strand": true,
"transcript": "NM_001003795.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 949,
"aa_ref": "T",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3551,
"cdna_start": 390,
"cds_end": null,
"cds_length": 2850,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000472837.7",
"gene_hgnc_id": 33125,
"gene_symbol": "GTF2IRD2B",
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Thr70Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001003795.3",
"protein_coding": true,
"protein_id": "ENSP00000480524.1",
"strand": true,
"transcript": "ENST00000472837.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 437,
"aa_ref": "T",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1932,
"cdna_start": 388,
"cds_end": null,
"cds_length": 1314,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000619142.4",
"gene_hgnc_id": 33125,
"gene_symbol": "GTF2IRD2B",
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Thr70Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480037.1",
"strand": true,
"transcript": "ENST00000619142.4",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 108,
"aa_ref": "T",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 573,
"cdna_start": 380,
"cds_end": null,
"cds_length": 327,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000614064.4",
"gene_hgnc_id": 33125,
"gene_symbol": "GTF2IRD2B",
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Thr70Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481706.1",
"strand": true,
"transcript": "ENST00000614064.4",
"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": 3485,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000418185.6",
"gene_hgnc_id": 33125,
"gene_symbol": "GTF2IRD2B",
"hgvs_c": "n.209C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000411454.3",
"strand": true,
"transcript": "ENST00000418185.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1116,
"aa_ref": "T",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4750,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 3351,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000651028.1",
"gene_hgnc_id": 33125,
"gene_symbol": "GTF2IRD2B",
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Thr232Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499147.1",
"strand": true,
"transcript": "ENST00000651028.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1111,
"aa_ref": "T",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4373,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 3336,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001368302.1",
"gene_hgnc_id": 33125,
"gene_symbol": "GTF2IRD2B",
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Thr232Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355231.1",
"strand": true,
"transcript": "NM_001368302.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 954,
"aa_ref": "T",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3760,
"cdna_start": 584,
"cds_end": null,
"cds_length": 2865,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000888756.1",
"gene_hgnc_id": 33125,
"gene_symbol": "GTF2IRD2B",
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Thr70Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558815.1",
"strand": true,
"transcript": "ENST00000888756.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 949,
"aa_ref": "T",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4352,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 2850,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888762.1",
"gene_hgnc_id": 33125,
"gene_symbol": "GTF2IRD2B",
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Thr70Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558821.1",
"strand": true,
"transcript": "ENST00000888762.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 949,
"aa_ref": "T",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4727,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 2850,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888768.1",
"gene_hgnc_id": 33125,
"gene_symbol": "GTF2IRD2B",
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Thr70Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558827.1",
"strand": true,
"transcript": "ENST00000888768.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 932,
"aa_ref": "T",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3521,
"cdna_start": 412,
"cds_end": null,
"cds_length": 2799,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000958673.1",
"gene_hgnc_id": 33125,
"gene_symbol": "GTF2IRD2B",
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Thr70Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628732.1",
"strand": true,
"transcript": "ENST00000958673.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 928,
"aa_ref": "T",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3463,
"cdna_start": 366,
"cds_end": null,
"cds_length": 2787,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000958680.1",
"gene_hgnc_id": 33125,
"gene_symbol": "GTF2IRD2B",
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Thr70Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628739.1",
"strand": true,
"transcript": "ENST00000958680.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 927,
"aa_ref": "T",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3494,
"cdna_start": 401,
"cds_end": null,
"cds_length": 2784,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000888767.1",
"gene_hgnc_id": 33125,
"gene_symbol": "GTF2IRD2B",
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Thr70Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558826.1",
"strand": true,
"transcript": "ENST00000888767.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 926,
"aa_ref": "T",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3494,
"cdna_start": 404,
"cds_end": null,
"cds_length": 2781,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000888764.1",
"gene_hgnc_id": 33125,
"gene_symbol": "GTF2IRD2B",
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Thr70Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558823.1",
"strand": true,
"transcript": "ENST00000888764.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 923,
"aa_ref": "T",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3507,
"cdna_start": 424,
"cds_end": null,
"cds_length": 2772,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000888759.1",
"gene_hgnc_id": 33125,
"gene_symbol": "GTF2IRD2B",
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Thr70Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558818.1",
"strand": true,
"transcript": "ENST00000888759.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 923,
"aa_ref": "T",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3494,
"cdna_start": 412,
"cds_end": null,
"cds_length": 2772,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000888761.1",
"gene_hgnc_id": 33125,
"gene_symbol": "GTF2IRD2B",
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Thr70Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558820.1",
"strand": true,
"transcript": "ENST00000888761.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 921,
"aa_ref": "T",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3534,
"cdna_start": 459,
"cds_end": null,
"cds_length": 2766,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000888758.1",
"gene_hgnc_id": 33125,
"gene_symbol": "GTF2IRD2B",
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Thr70Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558817.1",
"strand": true,
"transcript": "ENST00000888758.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 909,
"aa_ref": "T",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3447,
"cdna_start": 408,
"cds_end": null,
"cds_length": 2730,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000888763.1",
"gene_hgnc_id": 33125,
"gene_symbol": "GTF2IRD2B",
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Thr70Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558822.1",
"strand": true,
"transcript": "ENST00000888763.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 908,
"aa_ref": "T",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3438,
"cdna_start": 402,
"cds_end": null,
"cds_length": 2727,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000958677.1",
"gene_hgnc_id": 33125,
"gene_symbol": "GTF2IRD2B",
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Thr70Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628736.1",
"strand": true,
"transcript": "ENST00000958677.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 883,
"aa_ref": "T",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3375,
"cdna_start": 412,
"cds_end": null,
"cds_length": 2652,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000888760.1",
"gene_hgnc_id": 33125,
"gene_symbol": "GTF2IRD2B",
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Thr70Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558819.1",
"strand": true,
"transcript": "ENST00000888760.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 883,
"aa_ref": "T",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4542,
"cdna_start": 1581,
"cds_end": null,
"cds_length": 2652,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000958675.1",
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