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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: 2-159324938-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=159324938&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 159324938,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_013450.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6226A>G",
"hgvs_p": "p.Met2076Val",
"transcript": "NM_013450.4",
"protein_id": "NP_038478.2",
"transcript_support_level": null,
"aa_start": 2076,
"aa_end": null,
"aa_length": 2168,
"cds_start": 6226,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 6578,
"cdna_end": null,
"cdna_length": 8145,
"mane_select": "ENST00000392783.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013450.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6226A>G",
"hgvs_p": "p.Met2076Val",
"transcript": "ENST00000392783.7",
"protein_id": "ENSP00000376534.2",
"transcript_support_level": 5,
"aa_start": 2076,
"aa_end": null,
"aa_length": 2168,
"cds_start": 6226,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 6578,
"cdna_end": null,
"cdna_length": 8145,
"mane_select": "NM_013450.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392783.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6118A>G",
"hgvs_p": "p.Met2040Val",
"transcript": "ENST00000392782.5",
"protein_id": "ENSP00000376533.1",
"transcript_support_level": 1,
"aa_start": 2040,
"aa_end": null,
"aa_length": 2132,
"cds_start": 6118,
"cds_end": null,
"cds_length": 6399,
"cdna_start": 6491,
"cdna_end": null,
"cdna_length": 8058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392782.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6226A>G",
"hgvs_p": "p.Met2076Val",
"transcript": "ENST00000911534.1",
"protein_id": "ENSP00000581593.1",
"transcript_support_level": null,
"aa_start": 2076,
"aa_end": null,
"aa_length": 2168,
"cds_start": 6226,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 7436,
"cdna_end": null,
"cdna_length": 9000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911534.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6226A>G",
"hgvs_p": "p.Met2076Val",
"transcript": "ENST00000911538.1",
"protein_id": "ENSP00000581597.1",
"transcript_support_level": null,
"aa_start": 2076,
"aa_end": null,
"aa_length": 2168,
"cds_start": 6226,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 6384,
"cdna_end": null,
"cdna_length": 7878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911538.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6118A>G",
"hgvs_p": "p.Met2040Val",
"transcript": "ENST00000718451.1",
"protein_id": "ENSP00000520831.1",
"transcript_support_level": null,
"aa_start": 2040,
"aa_end": null,
"aa_length": 2160,
"cds_start": 6118,
"cds_end": null,
"cds_length": 6483,
"cdna_start": 6491,
"cdna_end": null,
"cdna_length": 7026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718451.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6169A>G",
"hgvs_p": "p.Met2057Val",
"transcript": "NM_001329857.2",
"protein_id": "NP_001316786.1",
"transcript_support_level": null,
"aa_start": 2057,
"aa_end": null,
"aa_length": 2149,
"cds_start": 6169,
"cds_end": null,
"cds_length": 6450,
"cdna_start": 6521,
"cdna_end": null,
"cdna_length": 8088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329857.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6151A>G",
"hgvs_p": "p.Met2051Val",
"transcript": "NM_001329858.2",
"protein_id": "NP_001316787.1",
"transcript_support_level": null,
"aa_start": 2051,
"aa_end": null,
"aa_length": 2143,
"cds_start": 6151,
"cds_end": null,
"cds_length": 6432,
"cdna_start": 6368,
"cdna_end": null,
"cdna_length": 7935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329858.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6124A>G",
"hgvs_p": "p.Met2042Val",
"transcript": "ENST00000911535.1",
"protein_id": "ENSP00000581594.1",
"transcript_support_level": null,
"aa_start": 2042,
"aa_end": null,
"aa_length": 2134,
"cds_start": 6124,
"cds_end": null,
"cds_length": 6405,
"cdna_start": 6594,
"cdna_end": null,
"cdna_length": 8161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911535.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6118A>G",
"hgvs_p": "p.Met2040Val",
"transcript": "NM_001289975.1",
"protein_id": "NP_001276904.1",
"transcript_support_level": null,
"aa_start": 2040,
"aa_end": null,
"aa_length": 2132,
"cds_start": 6118,
"cds_end": null,
"cds_length": 6399,
"cdna_start": 6523,
"cdna_end": null,
"cdna_length": 8090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289975.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.5830A>G",
"hgvs_p": "p.Met1944Val",
"transcript": "ENST00000911537.1",
"protein_id": "ENSP00000581596.1",
"transcript_support_level": null,
"aa_start": 1944,
"aa_end": null,
"aa_length": 2036,
"cds_start": 5830,
"cds_end": null,
"cds_length": 6111,
"cdna_start": 6082,
"cdna_end": null,
"cdna_length": 7646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911537.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.5662A>G",
"hgvs_p": "p.Met1888Val",
"transcript": "ENST00000911536.1",
"protein_id": "ENSP00000581595.1",
"transcript_support_level": null,
"aa_start": 1888,
"aa_end": null,
"aa_length": 1980,
"cds_start": 5662,
"cds_end": null,
"cds_length": 5943,
"cdna_start": 5916,
"cdna_end": null,
"cdna_length": 7483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911536.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6382A>G",
"hgvs_p": "p.Met2128Val",
"transcript": "XM_047444037.1",
"protein_id": "XP_047299993.1",
"transcript_support_level": null,
"aa_start": 2128,
"aa_end": null,
"aa_length": 2248,
"cds_start": 6382,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 7337,
"cdna_end": null,
"cdna_length": 7872,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444037.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6364A>G",
"hgvs_p": "p.Met2122Val",
"transcript": "XM_005246488.3",
"protein_id": "XP_005246545.2",
"transcript_support_level": null,
"aa_start": 2122,
"aa_end": null,
"aa_length": 2242,
"cds_start": 6364,
"cds_end": null,
"cds_length": 6729,
"cdna_start": 6581,
"cdna_end": null,
"cdna_length": 7116,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246488.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6364A>G",
"hgvs_p": "p.Met2122Val",
"transcript": "XM_005246489.5",
"protein_id": "XP_005246546.2",
"transcript_support_level": null,
"aa_start": 2122,
"aa_end": null,
"aa_length": 2242,
"cds_start": 6364,
"cds_end": null,
"cds_length": 6729,
"cdna_start": 6492,
"cdna_end": null,
"cdna_length": 7027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246489.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6364A>G",
"hgvs_p": "p.Met2122Val",
"transcript": "XM_017003920.2",
"protein_id": "XP_016859409.1",
"transcript_support_level": null,
"aa_start": 2122,
"aa_end": null,
"aa_length": 2242,
"cds_start": 6364,
"cds_end": null,
"cds_length": 6729,
"cdna_start": 7426,
"cdna_end": null,
"cdna_length": 7961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003920.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6364A>G",
"hgvs_p": "p.Met2122Val",
"transcript": "XM_047444038.1",
"protein_id": "XP_047299994.1",
"transcript_support_level": null,
"aa_start": 2122,
"aa_end": null,
"aa_length": 2242,
"cds_start": 6364,
"cds_end": null,
"cds_length": 6729,
"cdna_start": 7318,
"cdna_end": null,
"cdna_length": 7853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444038.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6364A>G",
"hgvs_p": "p.Met2122Val",
"transcript": "XM_047444039.1",
"protein_id": "XP_047299995.1",
"transcript_support_level": null,
"aa_start": 2122,
"aa_end": null,
"aa_length": 2242,
"cds_start": 6364,
"cds_end": null,
"cds_length": 6729,
"cdna_start": 7321,
"cdna_end": null,
"cdna_length": 7856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444039.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6364A>G",
"hgvs_p": "p.Met2122Val",
"transcript": "XM_047444040.1",
"protein_id": "XP_047299996.1",
"transcript_support_level": null,
"aa_start": 2122,
"aa_end": null,
"aa_length": 2242,
"cds_start": 6364,
"cds_end": null,
"cds_length": 6729,
"cdna_start": 7218,
"cdna_end": null,
"cdna_length": 7753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444040.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6364A>G",
"hgvs_p": "p.Met2122Val",
"transcript": "XM_047444041.1",
"protein_id": "XP_047299997.1",
"transcript_support_level": null,
"aa_start": 2122,
"aa_end": null,
"aa_length": 2242,
"cds_start": 6364,
"cds_end": null,
"cds_length": 6729,
"cdna_start": 7321,
"cdna_end": null,
"cdna_length": 7856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444041.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6364A>G",
"hgvs_p": "p.Met2122Val",
"transcript": "XM_047444042.1",
"protein_id": "XP_047299998.1",
"transcript_support_level": null,
"aa_start": 2122,
"aa_end": null,
"aa_length": 2242,
"cds_start": 6364,
"cds_end": null,
"cds_length": 6729,
"cdna_start": 7324,
"cdna_end": null,
"cdna_length": 7859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444042.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2B",
"gene_hgnc_id": 963,
"hgvs_c": "c.6364A>G",
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{
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}