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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: 1-207752277-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=207752277&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 207752277,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000367042.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "NM_172351.3",
"protein_id": "NP_758861.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 377,
"cds_start": 65,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 3320,
"mane_select": "ENST00000367042.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "ENST00000367042.6",
"protein_id": "ENSP00000356009.1",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 377,
"cds_start": 65,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 3320,
"mane_select": "NM_172351.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "ENST00000322875.8",
"protein_id": "ENSP00000313875.4",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 399,
"cds_start": 65,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "ENST00000358170.6",
"protein_id": "ENSP00000350893.2",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 392,
"cds_start": 65,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 3371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "ENST00000354848.5",
"protein_id": "ENSP00000346912.1",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 384,
"cds_start": 65,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 3233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "ENST00000357714.5",
"protein_id": "ENSP00000350346.1",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 369,
"cds_start": 65,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 3188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "ENST00000367041.5",
"protein_id": "ENSP00000356008.1",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 362,
"cds_start": 65,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 3281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "ENST00000360212.6",
"protein_id": "ENSP00000353342.2",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 355,
"cds_start": 65,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 163,
"cdna_end": null,
"cdna_length": 3081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "ENST00000322918.9",
"protein_id": "ENSP00000314664.5",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 349,
"cds_start": 65,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "n.210C>A",
"hgvs_p": null,
"transcript": "ENST00000469535.5",
"protein_id": null,
"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": 7826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "NM_172359.3",
"protein_id": "NP_758869.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 399,
"cds_start": 65,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 3272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "NM_002389.4",
"protein_id": "NP_002380.3",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 392,
"cds_start": 65,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 3393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "NM_153826.4",
"protein_id": "NP_722548.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 384,
"cds_start": 65,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "NM_172358.3",
"protein_id": "NP_758868.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 373,
"cds_start": 65,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "ENST00000695777.1",
"protein_id": "ENSP00000512167.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 373,
"cds_start": 65,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 3169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "NM_172356.3",
"protein_id": "NP_758866.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 370,
"cds_start": 65,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "ENST00000480003.5",
"protein_id": "ENSP00000418471.1",
"transcript_support_level": 5,
"aa_start": 22,
"aa_end": null,
"aa_length": 370,
"cds_start": 65,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 155,
"cdna_end": null,
"cdna_length": 1258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "NM_172353.3",
"protein_id": "NP_758863.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 369,
"cds_start": 65,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 3182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "NM_172355.3",
"protein_id": "NP_758865.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 363,
"cds_start": 65,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "NM_172352.3",
"protein_id": "NP_758862.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 362,
"cds_start": 65,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "ENST00000695782.1",
"protein_id": "ENSP00000512171.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 358,
"cds_start": 65,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "NM_172361.3",
"protein_id": "NP_758871.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 355,
"cds_start": 65,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 3140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.65C>A",
"hgvs_p": "p.Ala22Glu",
"transcript": "NM_172350.3",
"protein_id": "NP_758860.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 349,
"cds_start": 65,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 224,
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{
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"clinvar_classification": "Uncertain significance",
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}