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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: 12-51474379-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=51474379&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC4A8",
"hgnc_id": 11034,
"hgvs_c": "c.1942A>T",
"hgvs_p": "p.Thr648Ser",
"inheritance_mode": "Unknown",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001039960.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 96,
"alphamissense_prediction": null,
"alphamissense_score": 0.1927,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0,
"chr": "12",
"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": 0.1343730092048645,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1093,
"aa_ref": "T",
"aa_start": 648,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11764,
"cdna_start": 2099,
"cds_end": null,
"cds_length": 3282,
"cds_start": 1942,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001039960.3",
"gene_hgnc_id": 11034,
"gene_symbol": "SLC4A8",
"hgvs_c": "c.1942A>T",
"hgvs_p": "p.Thr648Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000453097.7",
"protein_coding": true,
"protein_id": "NP_001035049.1",
"strand": true,
"transcript": "NM_001039960.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1093,
"aa_ref": "T",
"aa_start": 648,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11764,
"cdna_start": 2099,
"cds_end": null,
"cds_length": 3282,
"cds_start": 1942,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000453097.7",
"gene_hgnc_id": 11034,
"gene_symbol": "SLC4A8",
"hgvs_c": "c.1942A>T",
"hgvs_p": "p.Thr648Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001039960.3",
"protein_coding": true,
"protein_id": "ENSP00000405812.2",
"strand": true,
"transcript": "ENST00000453097.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "T",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11731,
"cdna_start": 2066,
"cds_end": null,
"cds_length": 3123,
"cds_start": 1783,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000358657.7",
"gene_hgnc_id": 11034,
"gene_symbol": "SLC4A8",
"hgvs_c": "c.1783A>T",
"hgvs_p": "p.Thr595Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351483.4",
"strand": true,
"transcript": "ENST00000358657.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 747,
"aa_ref": "T",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3041,
"cdna_start": 2192,
"cds_end": null,
"cds_length": 2244,
"cds_start": 1783,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000514353.7",
"gene_hgnc_id": 11034,
"gene_symbol": "SLC4A8",
"hgvs_c": "c.1783A>T",
"hgvs_p": "p.Thr595Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442561.2",
"strand": true,
"transcript": "ENST00000514353.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1111,
"aa_ref": "T",
"aa_start": 648,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5243,
"cdna_start": 2099,
"cds_end": null,
"cds_length": 3336,
"cds_start": 1942,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000877857.1",
"gene_hgnc_id": 11034,
"gene_symbol": "SLC4A8",
"hgvs_c": "c.1942A>T",
"hgvs_p": "p.Thr648Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547916.1",
"strand": true,
"transcript": "ENST00000877857.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1081,
"aa_ref": "T",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11621,
"cdna_start": 1956,
"cds_end": null,
"cds_length": 3246,
"cds_start": 1906,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001405270.1",
"gene_hgnc_id": 11034,
"gene_symbol": "SLC4A8",
"hgvs_c": "c.1906A>T",
"hgvs_p": "p.Thr636Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001392199.1",
"strand": true,
"transcript": "NM_001405270.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "T",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11602,
"cdna_start": 1937,
"cds_end": null,
"cds_length": 3123,
"cds_start": 1783,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001258401.3",
"gene_hgnc_id": 11034,
"gene_symbol": "SLC4A8",
"hgvs_c": "c.1783A>T",
"hgvs_p": "p.Thr595Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245330.1",
"strand": true,
"transcript": "NM_001258401.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "T",
"aa_start": 648,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6194,
"cdna_start": 2100,
"cds_end": null,
"cds_length": 3030,
"cds_start": 1942,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000922421.1",
"gene_hgnc_id": 11034,
"gene_symbol": "SLC4A8",
"hgvs_c": "c.1942A>T",
"hgvs_p": "p.Thr648Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592480.1",
"strand": true,
"transcript": "ENST00000922421.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 955,
"aa_ref": "T",
"aa_start": 648,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11350,
"cdna_start": 2099,
"cds_end": null,
"cds_length": 2868,
"cds_start": 1942,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001405268.1",
"gene_hgnc_id": 11034,
"gene_symbol": "SLC4A8",
"hgvs_c": "c.1942A>T",
"hgvs_p": "p.Thr648Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001392197.1",
"strand": true,
"transcript": "NM_001405268.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 747,
"aa_ref": "T",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3038,
"cdna_start": 2192,
"cds_end": null,
"cds_length": 2244,
"cds_start": 1783,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001258403.2",
"gene_hgnc_id": 11034,
"gene_symbol": "SLC4A8",
"hgvs_c": "c.1783A>T",
"hgvs_p": "p.Thr595Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245332.1",
"strand": true,
"transcript": "NM_001258403.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 747,
"aa_ref": "T",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2783,
"cdna_start": 1937,
"cds_end": null,
"cds_length": 2244,
"cds_start": 1783,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001405266.1",
"gene_hgnc_id": 11034,
"gene_symbol": "SLC4A8",
"hgvs_c": "c.1783A>T",
"hgvs_p": "p.Thr595Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001392195.1",
"strand": true,
"transcript": "NM_001405266.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 691,
"aa_ref": "T",
"aa_start": 648,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 2099,
"cds_end": null,
"cds_length": 2076,
"cds_start": 1942,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001258402.2",
"gene_hgnc_id": 11034,
"gene_symbol": "SLC4A8",
"hgvs_c": "c.1942A>T",
"hgvs_p": "p.Thr648Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245331.1",
"strand": true,
"transcript": "NM_001258402.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 638,
"aa_ref": "T",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2135,
"cdna_start": 1937,
"cds_end": null,
"cds_length": 1917,
"cds_start": 1783,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001267615.2",
"gene_hgnc_id": 11034,
"gene_symbol": "SLC4A8",
"hgvs_c": "c.1783A>T",
"hgvs_p": "p.Thr595Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001254544.1",
"strand": true,
"transcript": "NM_001267615.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 638,
"aa_ref": "T",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2262,
"cdna_start": 2066,
"cds_end": null,
"cds_length": 1917,
"cds_start": 1783,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000535225.6",
"gene_hgnc_id": 11034,
"gene_symbol": "SLC4A8",
"hgvs_c": "c.1783A>T",
"hgvs_p": "p.Thr595Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441520.1",
"strand": true,
"transcript": "ENST00000535225.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1111,
"aa_ref": "T",
"aa_start": 648,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11818,
"cdna_start": 2099,
"cds_end": null,
"cds_length": 3336,
"cds_start": 1942,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011539010.2",
"gene_hgnc_id": 11034,
"gene_symbol": "SLC4A8",
"hgvs_c": "c.1942A>T",
"hgvs_p": "p.Thr648Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537312.1",
"strand": true,
"transcript": "XM_011539010.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "T",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11656,
"cdna_start": 1937,
"cds_end": null,
"cds_length": 3177,
"cds_start": 1783,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011539011.2",
"gene_hgnc_id": 11034,
"gene_symbol": "SLC4A8",
"hgvs_c": "c.1783A>T",
"hgvs_p": "p.Thr595Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537313.1",
"strand": true,
"transcript": "XM_011539011.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "T",
"aa_start": 648,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": 2099,
"cds_end": null,
"cds_length": 3135,
"cds_start": 1942,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047429911.1",
"gene_hgnc_id": 11034,
"gene_symbol": "SLC4A8",
"hgvs_c": "c.1942A>T",
"hgvs_p": "p.Thr648Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285867.1",
"strand": true,
"transcript": "XM_047429911.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 800,
"aa_ref": "T",
"aa_start": 648,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2945,
"cdna_start": 2099,
"cds_end": null,
"cds_length": 2403,
"cds_start": 1942,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_006719700.2",
"gene_hgnc_id": 11034,
"gene_symbol": "SLC4A8",
"hgvs_c": "c.1942A>T",
"hgvs_p": "p.Thr648Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006719763.1",
"strand": true,
"transcript": "XM_006719700.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 622,
"aa_ref": "T",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11199,
"cdna_start": 1480,
"cds_end": null,
"cds_length": 1869,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011539014.4",
"gene_hgnc_id": 11034,
"gene_symbol": "SLC4A8",
"hgvs_c": "c.475A>T",
"hgvs_p": "p.Thr159Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537316.1",
"strand": true,
"transcript": "XM_011539014.4",
"transcript_support_level": null
},
{
"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": 3834,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000319957.10",
"gene_hgnc_id": 11034,
"gene_symbol": "SLC4A8",
"hgvs_c": "n.1957A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000319957.10",
"transcript_support_level": 2
},
{
"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": 4005,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000551071.5",
"gene_hgnc_id": 11034,
"gene_symbol": "SLC4A8",
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{
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]
}