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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: 22-40382227-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=40382227&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 40382227,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000248929.14",
"consequences": [
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.-112+11539A>C",
"hgvs_p": null,
"transcript": "NM_015705.6",
"protein_id": "NP_056520.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": -4,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": "ENST00000248929.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.-112+11539A>C",
"hgvs_p": null,
"transcript": "ENST00000248929.14",
"protein_id": "ENSP00000248929.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": -4,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": "NM_015705.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284431",
"gene_hgnc_id": null,
"hgvs_c": "n.*1127+15729A>C",
"hgvs_p": null,
"transcript": "ENST00000639722.1",
"protein_id": "ENSP00000492828.1",
"transcript_support_level": 5,
"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": 4563,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.-112+11539A>C",
"hgvs_p": null,
"transcript": "NM_001350039.2",
"protein_id": "NP_001336968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 766,
"cds_start": -4,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3037,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.-112+11539A>C",
"hgvs_p": null,
"transcript": "NM_001350040.2",
"protein_id": "NP_001336969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": -4,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2587,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.-112+11539A>C",
"hgvs_p": null,
"transcript": "NM_001350041.2",
"protein_id": "NP_001336970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": -4,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2536,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.-239+11539A>C",
"hgvs_p": null,
"transcript": "NM_001350042.2",
"protein_id": "NP_001336971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 703,
"cds_start": -4,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2975,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.-230+11539A>C",
"hgvs_p": null,
"transcript": "NM_001350043.2",
"protein_id": "NP_001336972.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 699,
"cds_start": -4,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2954,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.-156+11539A>C",
"hgvs_p": null,
"transcript": "NM_001350044.2",
"protein_id": "NP_001336973.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 686,
"cds_start": -4,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2841,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.-239+11539A>C",
"hgvs_p": null,
"transcript": "NM_001350045.2",
"protein_id": "NP_001336974.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 686,
"cds_start": -4,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2924,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.-230+11539A>C",
"hgvs_p": null,
"transcript": "NM_001350046.2",
"protein_id": "NP_001336975.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 682,
"cds_start": -4,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
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"cdna_length": 2903,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.-230+11539A>C",
"hgvs_p": null,
"transcript": "NM_001350047.2",
"protein_id": "NP_001336976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 672,
"cds_start": -4,
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"cds_length": 2019,
"cdna_start": null,
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"cdna_length": 2453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.-156+11539A>C",
"hgvs_p": null,
"transcript": "NM_001301849.2",
"protein_id": "NP_001288778.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 660,
"cds_start": -4,
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"cds_length": 1983,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.-574+11539A>C",
"hgvs_p": null,
"transcript": "NM_001350048.2",
"protein_id": "NP_001336977.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.1432-4992A>C",
"hgvs_p": null,
"transcript": "NM_001363840.3",
"protein_id": "NP_001350769.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.1432-4992A>C",
"hgvs_p": null,
"transcript": "ENST00000636714.1",
"protein_id": "ENSP00000490946.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.-230+11539A>C",
"hgvs_p": null,
"transcript": "ENST00000457767.5",
"protein_id": "ENSP00000399249.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
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"cds_length": 759,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.88-8003A>C",
"hgvs_p": null,
"transcript": "ENST00000498234.2",
"protein_id": "ENSP00000476535.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": -4,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGSM3-AS1",
"gene_hgnc_id": 41088,
"hgvs_c": "n.146+5918T>G",
"hgvs_p": null,
"transcript": "ENST00000414261.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "n.50+11539A>C",
"hgvs_p": null,
"transcript": "ENST00000485962.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGSM3-AS1",
"gene_hgnc_id": 41088,
"hgvs_c": "n.74-2761T>G",
"hgvs_p": null,
"transcript": "ENST00000607915.5",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGSM3-AS1",
"gene_hgnc_id": 41088,
"hgvs_c": "n.74-3964T>G",
"hgvs_p": null,
"transcript": "ENST00000608572.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "n.*179-4992A>C",
"hgvs_p": null,
"transcript": "ENST00000637669.1",
"protein_id": "ENSP00000489728.1",
"transcript_support_level": 5,
"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": 1927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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}