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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: 7-26364575-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=26364575&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 26364575,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000338523.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "NM_013322.3",
"protein_id": "NP_037454.2",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 201,
"cds_start": 152,
"cds_end": null,
"cds_length": 606,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 2665,
"mane_select": "ENST00000338523.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "ENST00000338523.9",
"protein_id": "ENSP00000343709.5",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 201,
"cds_start": 152,
"cds_end": null,
"cds_length": 606,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 2665,
"mane_select": "NM_013322.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "ENST00000396376.5",
"protein_id": "ENSP00000379661.1",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 201,
"cds_start": 152,
"cds_end": null,
"cds_length": 606,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "ENST00000446848.6",
"protein_id": "ENSP00000395474.3",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 201,
"cds_start": 152,
"cds_end": null,
"cds_length": 606,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 2613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.-41+73G>A",
"hgvs_p": null,
"transcript": "ENST00000409838.1",
"protein_id": "ENSP00000386540.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 117,
"cds_start": -4,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Arg77Gln",
"transcript": "NM_001318198.1",
"protein_id": "NP_001305127.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 227,
"cds_start": 230,
"cds_end": null,
"cds_length": 684,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Arg77Gln",
"transcript": "NM_001362753.1",
"protein_id": "NP_001349682.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 227,
"cds_start": 230,
"cds_end": null,
"cds_length": 684,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Arg77Gln",
"transcript": "NM_001362754.1",
"protein_id": "NP_001349683.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 227,
"cds_start": 230,
"cds_end": null,
"cds_length": 684,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 2763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "ENST00000698087.1",
"protein_id": "ENSP00000513557.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 223,
"cds_start": 152,
"cds_end": null,
"cds_length": 672,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 2932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "NM_001199835.1",
"protein_id": "NP_001186764.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 201,
"cds_start": 152,
"cds_end": null,
"cds_length": 606,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "NM_001318199.3",
"protein_id": "NP_001305128.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 201,
"cds_start": 152,
"cds_end": null,
"cds_length": 606,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "ENST00000698078.1",
"protein_id": "ENSP00000513550.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 201,
"cds_start": 152,
"cds_end": null,
"cds_length": 606,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "ENST00000698079.1",
"protein_id": "ENSP00000513551.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 201,
"cds_start": 152,
"cds_end": null,
"cds_length": 606,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "ENST00000698080.1",
"protein_id": "ENSP00000513552.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 201,
"cds_start": 152,
"cds_end": null,
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"cdna_start": 694,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "ENST00000698088.1",
"protein_id": "ENSP00000513558.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 201,
"cds_start": 152,
"cds_end": null,
"cds_length": 606,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 2519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "ENST00000698090.1",
"protein_id": "ENSP00000513560.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 201,
"cds_start": 152,
"cds_end": null,
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"cdna_start": 691,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48Gln",
"transcript": "NM_001199837.3",
"protein_id": "NP_001186766.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 198,
"cds_start": 143,
"cds_end": null,
"cds_length": 597,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "ENST00000698077.1",
"protein_id": "ENSP00000513549.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 192,
"cds_start": 152,
"cds_end": null,
"cds_length": 579,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 2402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.32G>A",
"hgvs_p": "p.Arg11Gln",
"transcript": "ENST00000409367.6",
"protein_id": "ENSP00000387274.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 161,
"cds_start": 32,
"cds_end": null,
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"cdna_start": 401,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.32G>A",
"hgvs_p": "p.Arg11Gln",
"transcript": "ENST00000416246.6",
"protein_id": "ENSP00000408164.2",
"transcript_support_level": 2,
"aa_start": 11,
"aa_end": null,
"aa_length": 161,
"cds_start": 32,
"cds_end": null,
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"cdna_start": 464,
"cdna_end": null,
"cdna_length": 2652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.32G>A",
"hgvs_p": "p.Arg11Gln",
"transcript": "ENST00000698074.1",
"protein_id": "ENSP00000513546.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 161,
"cds_start": 32,
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"cdna_start": 511,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.32G>A",
"hgvs_p": "p.Arg11Gln",
"transcript": "ENST00000698075.1",
"protein_id": "ENSP00000513547.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 161,
"cds_start": 32,
"cds_end": null,
"cds_length": 486,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.32G>A",
"hgvs_p": "p.Arg11Gln",
"transcript": "ENST00000698076.1",
"protein_id": "ENSP00000513548.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 161,
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"phenotype_combined": "Autosomal recessive osteopetrosis 8|not provided",
"pathogenicity_classification_combined": "Pathogenic",
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}
],
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}