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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: 17-42223478-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42223478&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42223478,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000293328.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152*",
"transcript": "NM_012448.4",
"protein_id": "NP_036580.2",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 787,
"cds_start": 454,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 5079,
"mane_select": "ENST00000293328.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152*",
"transcript": "ENST00000293328.8",
"protein_id": "ENSP00000293328.3",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 787,
"cds_start": 454,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 5079,
"mane_select": "NM_012448.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "n.623C>T",
"hgvs_p": null,
"transcript": "ENST00000468312.1",
"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": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152*",
"transcript": "ENST00000415845.2",
"protein_id": "ENSP00000398379.2",
"transcript_support_level": 4,
"aa_start": 152,
"aa_end": null,
"aa_length": 787,
"cds_start": 454,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 5015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152*",
"transcript": "ENST00000698776.1",
"protein_id": "ENSP00000513923.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 787,
"cds_start": 454,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 5481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152*",
"transcript": "ENST00000698777.1",
"protein_id": "ENSP00000513924.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 787,
"cds_start": 454,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 5110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152*",
"transcript": "ENST00000698808.1",
"protein_id": "ENSP00000513947.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 786,
"cds_start": 454,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 5083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152*",
"transcript": "ENST00000698778.1",
"protein_id": "ENSP00000513925.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 766,
"cds_start": 454,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 5018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152*",
"transcript": "ENST00000698809.1",
"protein_id": "ENSP00000513948.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 756,
"cds_start": 454,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 4993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152*",
"transcript": "ENST00000698779.1",
"protein_id": "ENSP00000513926.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 746,
"cds_start": 454,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 5547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152*",
"transcript": "XM_024450897.2",
"protein_id": "XP_024306665.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 787,
"cds_start": 454,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 5519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152*",
"transcript": "XM_024450898.2",
"protein_id": "XP_024306666.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 787,
"cds_start": 454,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 7812,
"cdna_end": null,
"cdna_length": 12283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Arg58*",
"transcript": "XM_017024977.2",
"protein_id": "XP_016880466.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 693,
"cds_start": 172,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 4922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Arg58*",
"transcript": "XM_047436593.1",
"protein_id": "XP_047292549.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 693,
"cds_start": 172,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 5362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152*",
"transcript": "XM_005257626.5",
"protein_id": "XP_005257683.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 497,
"cds_start": 454,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 1698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "n.628C>T",
"hgvs_p": null,
"transcript": "ENST00000698774.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 5786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "n.*460C>T",
"hgvs_p": null,
"transcript": "ENST00000698775.1",
"protein_id": "ENSP00000513922.1",
"transcript_support_level": null,
"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": 5236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "n.330C>T",
"hgvs_p": null,
"transcript": "ENST00000698801.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "n.*168C>T",
"hgvs_p": null,
"transcript": "ENST00000698802.1",
"protein_id": "ENSP00000513944.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 4613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "n.*204C>T",
"hgvs_p": null,
"transcript": "ENST00000698803.1",
"protein_id": "ENSP00000513945.1",
"transcript_support_level": null,
"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": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "n.1795C>T",
"hgvs_p": null,
"transcript": "ENST00000698804.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 7345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "n.1797C>T",
"hgvs_p": null,
"transcript": "ENST00000698805.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "n.*168C>T",
"hgvs_p": null,
"transcript": "ENST00000698806.1",
"protein_id": "ENSP00000513946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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}
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}