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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: 1-113958136-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=113958136&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 113958136,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_198268.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"transcript": "NM_198268.3",
"protein_id": "NP_938009.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 1210,
"cds_start": 1826,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000426820.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198268.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"transcript": "ENST00000426820.7",
"protein_id": "ENSP00000407442.3",
"transcript_support_level": 2,
"aa_start": 609,
"aa_end": null,
"aa_length": 1210,
"cds_start": 1826,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198268.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426820.7"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"transcript": "ENST00000369558.5",
"protein_id": "ENSP00000358571.1",
"transcript_support_level": 1,
"aa_start": 609,
"aa_end": null,
"aa_length": 1210,
"cds_start": 1826,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369558.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"transcript": "ENST00000369559.8",
"protein_id": "ENSP00000358572.4",
"transcript_support_level": 1,
"aa_start": 609,
"aa_end": null,
"aa_length": 1075,
"cds_start": 1826,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369559.8"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.704T>C",
"hgvs_p": "p.Leu235Pro",
"transcript": "ENST00000340480.8",
"protein_id": "ENSP00000340956.4",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 836,
"cds_start": 704,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340480.8"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Leu215Pro",
"transcript": "ENST00000369553.5",
"protein_id": "ENSP00000358566.1",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 816,
"cds_start": 644,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369553.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"transcript": "NM_001369806.1",
"protein_id": "NP_001356735.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 1210,
"cds_start": 1826,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369806.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"transcript": "ENST00000901069.1",
"protein_id": "ENSP00000571128.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 1210,
"cds_start": 1826,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901069.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"transcript": "ENST00000901070.1",
"protein_id": "ENSP00000571129.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 1210,
"cds_start": 1826,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901070.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"transcript": "ENST00000901071.1",
"protein_id": "ENSP00000571130.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 1210,
"cds_start": 1826,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901071.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"transcript": "ENST00000901072.1",
"protein_id": "ENSP00000571131.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 1210,
"cds_start": 1826,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901072.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"transcript": "NM_001369807.1",
"protein_id": "NP_001356736.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 1209,
"cds_start": 1826,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369807.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"transcript": "ENST00000901068.1",
"protein_id": "ENSP00000571127.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 1185,
"cds_start": 1826,
"cds_end": null,
"cds_length": 3558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901068.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1724T>C",
"hgvs_p": "p.Leu575Pro",
"transcript": "NM_001410847.1",
"protein_id": "NP_001397776.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 1176,
"cds_start": 1724,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410847.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1724T>C",
"hgvs_p": "p.Leu575Pro",
"transcript": "ENST00000369561.8",
"protein_id": "ENSP00000358574.4",
"transcript_support_level": 5,
"aa_start": 575,
"aa_end": null,
"aa_length": 1176,
"cds_start": 1724,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369561.8"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1706T>C",
"hgvs_p": "p.Leu569Pro",
"transcript": "ENST00000931242.1",
"protein_id": "ENSP00000601301.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1170,
"cds_start": 1706,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931242.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"transcript": "ENST00000369555.6",
"protein_id": "ENSP00000358568.1",
"transcript_support_level": 5,
"aa_start": 609,
"aa_end": null,
"aa_length": 1165,
"cds_start": 1826,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369555.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"transcript": "ENST00000626993.2",
"protein_id": "ENSP00000486090.1",
"transcript_support_level": 5,
"aa_start": 609,
"aa_end": null,
"aa_length": 1165,
"cds_start": 1826,
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"cds_length": 3498,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626993.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"transcript": "ENST00000931243.1",
"protein_id": "ENSP00000601302.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 1165,
"cds_start": 1826,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931243.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"transcript": "ENST00000931241.1",
"protein_id": "ENSP00000601300.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 1164,
"cds_start": 1826,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931241.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1724T>C",
"hgvs_p": "p.Leu575Pro",
"transcript": "ENST00000931244.1",
"protein_id": "ENSP00000601303.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 1151,
"cds_start": 1724,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931244.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1",
"gene_hgnc_id": 19006,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"transcript": "NM_152696.4",
"protein_id": "NP_689909.2",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 1075,
"cds_start": 1826,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}