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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: 14-23062958-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23062958&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ACIN1",
"hgnc_id": 17066,
"hgvs_c": "c.3028A>T",
"hgvs_p": "p.Ile1010Phe",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_014977.4",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000288795",
"hgnc_id": null,
"hgvs_c": "n.1153T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000805320.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.6652,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.19485041499137878,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1283,
"aa_ref": "I",
"aa_start": 952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4460,
"cdna_start": 2878,
"cds_end": null,
"cds_length": 3852,
"cds_start": 2854,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001386863.1",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.2854A>T",
"hgvs_p": "p.Ile952Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000605057.6",
"protein_coding": true,
"protein_id": "NP_001373792.1",
"strand": false,
"transcript": "NM_001386863.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1283,
"aa_ref": "I",
"aa_start": 952,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4460,
"cdna_start": 2878,
"cds_end": null,
"cds_length": 3852,
"cds_start": 2854,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000605057.6",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.2854A>T",
"hgvs_p": "p.Ile952Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001386863.1",
"protein_coding": true,
"protein_id": "ENSP00000474349.1",
"strand": false,
"transcript": "ENST00000605057.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1341,
"aa_ref": "I",
"aa_start": 1010,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4935,
"cdna_start": 3356,
"cds_end": null,
"cds_length": 4026,
"cds_start": 3028,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000262710.5",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.3028A>T",
"hgvs_p": "p.Ile1010Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262710.1",
"strand": false,
"transcript": "ENST00000262710.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "I",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4173,
"cdna_start": 3086,
"cds_end": null,
"cds_length": 3987,
"cds_start": 2989,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000555053.5",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.2989A>T",
"hgvs_p": "p.Ile997Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451328.1",
"strand": false,
"transcript": "ENST00000555053.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 614,
"aa_ref": "I",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2445,
"cdna_start": 866,
"cds_end": null,
"cds_length": 1845,
"cds_start": 847,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000338631.10",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.847A>T",
"hgvs_p": "p.Ile283Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345541.6",
"strand": false,
"transcript": "ENST00000338631.10",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 583,
"aa_ref": "I",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2563,
"cdna_start": 984,
"cds_end": null,
"cds_length": 1752,
"cds_start": 754,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000357481.6",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.754A>T",
"hgvs_p": "p.Ile252Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350073.2",
"strand": false,
"transcript": "ENST00000357481.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 583,
"aa_ref": "I",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2738,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 1752,
"cds_start": 754,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000397341.7",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.754A>T",
"hgvs_p": "p.Ile252Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380502.3",
"strand": false,
"transcript": "ENST00000397341.7",
"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": 3540,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000473758.5",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "n.*1851A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000483298.1",
"strand": false,
"transcript": "ENST00000473758.5",
"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": 3540,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000473758.5",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "n.*1851A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000483298.1",
"strand": false,
"transcript": "ENST00000473758.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1341,
"aa_ref": "I",
"aa_start": 1010,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4795,
"cdna_start": 3213,
"cds_end": null,
"cds_length": 4026,
"cds_start": 3028,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_014977.4",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.3028A>T",
"hgvs_p": "p.Ile1010Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055792.2",
"strand": false,
"transcript": "NM_014977.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "I",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4756,
"cdna_start": 3174,
"cds_end": null,
"cds_length": 3987,
"cds_start": 2989,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001164814.2",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.2989A>T",
"hgvs_p": "p.Ile997Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001158286.2",
"strand": false,
"transcript": "NM_001164814.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1301,
"aa_ref": "I",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4675,
"cdna_start": 3093,
"cds_end": null,
"cds_length": 3906,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001164815.2",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.2908A>T",
"hgvs_p": "p.Ile970Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001158287.2",
"strand": false,
"transcript": "NM_001164815.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 1301,
"aa_ref": "I",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4815,
"cdna_start": 3236,
"cds_end": null,
"cds_length": 3906,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000457657.5",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.2908A>T",
"hgvs_p": "p.Ile970Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405677.1",
"strand": false,
"transcript": "ENST00000457657.5",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1282,
"aa_ref": "I",
"aa_start": 951,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4476,
"cdna_start": 2891,
"cds_end": null,
"cds_length": 3849,
"cds_start": 2851,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000897553.1",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.2851A>T",
"hgvs_p": "p.Ile951Phe",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567612.1",
"strand": false,
"transcript": "ENST00000897553.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1280,
"aa_ref": "I",
"aa_start": 949,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4466,
"cdna_start": 2887,
"cds_end": null,
"cds_length": 3843,
"cds_start": 2845,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000941951.1",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.2845A>T",
"hgvs_p": "p.Ile949Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612010.1",
"strand": false,
"transcript": "ENST00000941951.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 1275,
"aa_ref": "I",
"aa_start": 944,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4431,
"cdna_start": 2852,
"cds_end": null,
"cds_length": 3828,
"cds_start": 2830,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000897559.1",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.2830A>T",
"hgvs_p": "p.Ile944Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567618.1",
"strand": false,
"transcript": "ENST00000897559.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4446,
"cdna_start": 2864,
"cds_end": null,
"cds_length": 3816,
"cds_start": 2818,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000897552.1",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.2818A>T",
"hgvs_p": "p.Ile940Phe",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567611.1",
"strand": false,
"transcript": "ENST00000897552.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 1244,
"aa_ref": "I",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4344,
"cdna_start": 2762,
"cds_end": null,
"cds_length": 3735,
"cds_start": 2737,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000897558.1",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.2737A>T",
"hgvs_p": "p.Ile913Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567617.1",
"strand": false,
"transcript": "ENST00000897558.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 1242,
"aa_ref": "I",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4346,
"cdna_start": 2764,
"cds_end": null,
"cds_length": 3729,
"cds_start": 2731,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000897554.1",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.2731A>T",
"hgvs_p": "p.Ile911Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567613.1",
"strand": false,
"transcript": "ENST00000897554.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1240,
"aa_ref": "I",
"aa_start": 909,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4328,
"cdna_start": 2749,
"cds_end": null,
"cds_length": 3723,
"cds_start": 2725,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000916202.1",
"gene_hgnc_id": 17066,
"gene_symbol": "ACIN1",
"hgvs_c": "c.2725A>T",
"hgvs_p": "p.Ile909Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586261.1",
"strand": false,
"transcript": "ENST00000916202.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1233,
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