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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: 3-27383241-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=27383241&ref=G&alt=A&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "3",
"pos": 27383241,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001321103.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3502C>T",
"hgvs_p": "p.Arg1168Trp",
"transcript": "NM_001321103.2",
"protein_id": "NP_001308032.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3502,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 3760,
"cdna_end": null,
"cdna_length": 8079,
"mane_select": "ENST00000454389.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3502C>T",
"hgvs_p": "p.Arg1168Trp",
"transcript": "ENST00000454389.6",
"protein_id": "ENSP00000390394.1",
"transcript_support_level": 1,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3502,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 3760,
"cdna_end": null,
"cdna_length": 8079,
"mane_select": "NM_001321103.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3463C>T",
"hgvs_p": "p.Arg1155Trp",
"transcript": "ENST00000440156.5",
"protein_id": "ENSP00000414797.1",
"transcript_support_level": 1,
"aa_start": 1155,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3463,
"cds_end": null,
"cds_length": 3741,
"cdna_start": 3684,
"cdna_end": null,
"cdna_length": 4120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3475C>T",
"hgvs_p": "p.Arg1159Trp",
"transcript": "ENST00000295736.9",
"protein_id": "ENSP00000295736.5",
"transcript_support_level": 1,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3475,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3546,
"cdna_end": null,
"cdna_length": 7757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3463C>T",
"hgvs_p": "p.Arg1155Trp",
"transcript": "ENST00000445684.5",
"protein_id": "ENSP00000406804.1",
"transcript_support_level": 1,
"aa_start": 1155,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3463,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 3733,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3451C>T",
"hgvs_p": "p.Arg1151Trp",
"transcript": "ENST00000446700.5",
"protein_id": "ENSP00000406605.1",
"transcript_support_level": 1,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3451,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 3672,
"cdna_end": null,
"cdna_length": 4000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3118C>T",
"hgvs_p": "p.Arg1040Trp",
"transcript": "ENST00000455077.5",
"protein_id": "ENSP00000407382.1",
"transcript_support_level": 1,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1131,
"cds_start": 3118,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 3339,
"cdna_end": null,
"cdna_length": 3775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3118C>T",
"hgvs_p": "p.Arg1040Trp",
"transcript": "ENST00000437179.5",
"protein_id": "ENSP00000394252.1",
"transcript_support_level": 1,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1095,
"cds_start": 3118,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 3339,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3103C>T",
"hgvs_p": "p.Arg1035Trp",
"transcript": "ENST00000428386.5",
"protein_id": "ENSP00000416368.1",
"transcript_support_level": 1,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1090,
"cds_start": 3103,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 3174,
"cdna_end": null,
"cdna_length": 7385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2128C>T",
"hgvs_p": "p.Arg710Trp",
"transcript": "ENST00000419036.5",
"protein_id": "ENSP00000411031.1",
"transcript_support_level": 1,
"aa_start": 710,
"aa_end": null,
"aa_length": 801,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2128,
"cdna_end": null,
"cdna_length": 6447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1551C>T",
"hgvs_p": null,
"transcript": "ENST00000437266.5",
"protein_id": "ENSP00000409418.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1551C>T",
"hgvs_p": null,
"transcript": "ENST00000438530.5",
"protein_id": "ENSP00000407304.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1551C>T",
"hgvs_p": null,
"transcript": "ENST00000457377.5",
"protein_id": "ENSP00000408323.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1551C>T",
"hgvs_p": null,
"transcript": "ENST00000437266.5",
"protein_id": "ENSP00000409418.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1551C>T",
"hgvs_p": null,
"transcript": "ENST00000438530.5",
"protein_id": "ENSP00000407304.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1551C>T",
"hgvs_p": null,
"transcript": "ENST00000457377.5",
"protein_id": "ENSP00000408323.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3463C>T",
"hgvs_p": "p.Arg1155Trp",
"transcript": "NM_001321104.2",
"protein_id": "NP_001308033.1",
"transcript_support_level": null,
"aa_start": 1155,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3463,
"cds_end": null,
"cds_length": 3741,
"cdna_start": 3721,
"cdna_end": null,
"cdna_length": 8040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3475C>T",
"hgvs_p": "p.Arg1159Trp",
"transcript": "NM_003615.5",
"protein_id": "NP_003606.3",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3475,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3570,
"cdna_end": null,
"cdna_length": 7781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3463C>T",
"hgvs_p": "p.Arg1155Trp",
"transcript": "NM_001321105.2",
"protein_id": "NP_001308034.1",
"transcript_support_level": null,
"aa_start": 1155,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3463,
"cds_end": null,
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"cdna_start": 3721,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3451C>T",
"hgvs_p": "p.Arg1151Trp",
"transcript": "NM_001321106.2",
"protein_id": "NP_001308035.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3451,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 3709,
"cdna_end": null,
"cdna_length": 7920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3130C>T",
"hgvs_p": "p.Arg1044Trp",
"transcript": "NM_001321108.2",
"protein_id": "NP_001308037.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1135,
"cds_start": 3130,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 3388,
"cdna_end": null,
"cdna_length": 7707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3118C>T",
"hgvs_p": "p.Arg1040Trp",
"transcript": "NM_001258379.2",
"protein_id": "NP_001245308.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1131,
"cds_start": 3118,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 3376,
"cdna_end": null,
"cdna_length": 7695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
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],
"verdict": "Uncertain_significance",
"transcript": "NM_001321103.2",
"gene_symbol": "SLC4A7",
"hgnc_id": 11033,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3502C>T",
"hgvs_p": "p.Arg1168Trp"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000661166.2",
"gene_symbol": "ENSG00000287348",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.994-4431G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}