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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: X-154412129-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154412129&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154412129,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000601016.6",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.153C>A",
"hgvs_p": "p.Tyr51*",
"transcript": "NM_000116.5",
"protein_id": "NP_000107.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 292,
"cds_start": 153,
"cds_end": null,
"cds_length": 879,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": "ENST00000601016.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.153C>A",
"hgvs_p": "p.Tyr51*",
"transcript": "ENST00000601016.6",
"protein_id": "ENSP00000469981.1",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 292,
"cds_start": 153,
"cds_end": null,
"cds_length": 879,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": "NM_000116.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.207C>A",
"hgvs_p": "p.Tyr69*",
"transcript": "ENST00000475699.6",
"protein_id": "ENSP00000419854.3",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 280,
"cds_start": 207,
"cds_end": null,
"cds_length": 843,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.153C>A",
"hgvs_p": "p.Tyr51*",
"transcript": "ENST00000612460.5",
"protein_id": "ENSP00000481037.1",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 262,
"cds_start": 153,
"cds_end": null,
"cds_length": 789,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 1790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.153C>A",
"hgvs_p": "p.Tyr51*",
"transcript": "ENST00000613002.4",
"protein_id": "ENSP00000478154.1",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 248,
"cds_start": 153,
"cds_end": null,
"cds_length": 747,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 1485,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "n.44C>A",
"hgvs_p": null,
"transcript": "ENST00000483674.3",
"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": 1483,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.163+123C>A",
"hgvs_p": null,
"transcript": "ENST00000369776.8",
"protein_id": "ENSP00000358791.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": -4,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.207C>A",
"hgvs_p": "p.Tyr69*",
"transcript": "NM_001440856.1",
"protein_id": "NP_001427785.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 310,
"cds_start": 207,
"cds_end": null,
"cds_length": 933,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.207C>A",
"hgvs_p": "p.Tyr69*",
"transcript": "NM_001303465.2",
"protein_id": "NP_001290394.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 296,
"cds_start": 207,
"cds_end": null,
"cds_length": 891,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.207C>A",
"hgvs_p": "p.Tyr69*",
"transcript": "ENST00000616020.5",
"protein_id": "ENSP00000483636.2",
"transcript_support_level": 5,
"aa_start": 69,
"aa_end": null,
"aa_length": 296,
"cds_start": 207,
"cds_end": null,
"cds_length": 891,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.207C>A",
"hgvs_p": "p.Tyr69*",
"transcript": "NM_001410698.1",
"protein_id": "NP_001397627.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 280,
"cds_start": 207,
"cds_end": null,
"cds_length": 843,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.153C>A",
"hgvs_p": "p.Tyr51*",
"transcript": "NM_181312.4",
"protein_id": "NP_851829.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 278,
"cds_start": 153,
"cds_end": null,
"cds_length": 837,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.153C>A",
"hgvs_p": "p.Tyr51*",
"transcript": "ENST00000612012.5",
"protein_id": "ENSP00000482070.2",
"transcript_support_level": 5,
"aa_start": 51,
"aa_end": null,
"aa_length": 278,
"cds_start": 153,
"cds_end": null,
"cds_length": 837,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 1230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.207C>A",
"hgvs_p": "p.Tyr69*",
"transcript": "NM_001440857.1",
"protein_id": "NP_001427786.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 266,
"cds_start": 207,
"cds_end": null,
"cds_length": 801,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.72C>A",
"hgvs_p": "p.Tyr24*",
"transcript": "ENST00000652390.1",
"protein_id": "ENSP00000498858.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 265,
"cds_start": 72,
"cds_end": null,
"cds_length": 798,
"cdna_start": 72,
"cdna_end": null,
"cdna_length": 1102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.153C>A",
"hgvs_p": "p.Tyr51*",
"transcript": "NM_181311.4",
"protein_id": "NP_851828.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 262,
"cds_start": 153,
"cds_end": null,
"cds_length": 789,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.153C>A",
"hgvs_p": "p.Tyr51*",
"transcript": "NM_181313.4",
"protein_id": "NP_851830.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 248,
"cds_start": 153,
"cds_end": null,
"cds_length": 747,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.153C>A",
"hgvs_p": "p.Tyr51*",
"transcript": "NM_001440858.1",
"protein_id": "NP_001427787.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 221,
"cds_start": 153,
"cds_end": null,
"cds_length": 666,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.153C>A",
"hgvs_p": "p.Tyr51*",
"transcript": "ENST00000439735.2",
"protein_id": "ENSP00000398193.1",
"transcript_support_level": 5,
"aa_start": 51,
"aa_end": null,
"aa_length": 183,
"cds_start": 153,
"cds_end": null,
"cds_length": 553,
"cdna_start": 167,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.207C>A",
"hgvs_p": "p.Tyr69*",
"transcript": "XM_006724837.2",
"protein_id": "XP_006724900.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 305,
"cds_start": 207,
"cds_end": null,
"cds_length": 918,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.153C>A",
"hgvs_p": "p.Tyr51*",
"transcript": "XM_017029761.2",
"protein_id": "XP_016885250.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 287,
"cds_start": 153,
"cds_end": null,
"cds_length": 864,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.207C>A",
"hgvs_p": "p.Tyr69*",
"transcript": "XM_011531189.2",
"protein_id": "XP_011529491.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 239,
"cds_start": 207,
"cds_end": null,
"cds_length": 720,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1747,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "n.118C>A",
"hgvs_p": null,
"transcript": "ENST00000476800.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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}