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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: 8-61517549-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=61517549&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 61517549,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001413844.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2105T>C",
"hgvs_p": "p.Ile702Thr",
"transcript": "NM_004318.4",
"protein_id": "NP_004309.2",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 758,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379454.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004318.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2105T>C",
"hgvs_p": "p.Ile702Thr",
"transcript": "ENST00000379454.9",
"protein_id": "ENSP00000368767.4",
"transcript_support_level": 1,
"aa_start": 702,
"aa_end": null,
"aa_length": 758,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004318.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379454.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2675T>C",
"hgvs_p": "p.Ile892Thr",
"transcript": "ENST00000950798.1",
"protein_id": "ENSP00000620857.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 948,
"cds_start": 2675,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950798.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2105T>C",
"hgvs_p": "p.Ile702Thr",
"transcript": "NM_001413844.1",
"protein_id": "NP_001400773.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 785,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413844.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2105T>C",
"hgvs_p": "p.Ile702Thr",
"transcript": "ENST00000887974.1",
"protein_id": "ENSP00000558033.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 785,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887974.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2102T>C",
"hgvs_p": "p.Ile701Thr",
"transcript": "ENST00000887966.1",
"protein_id": "ENSP00000558025.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 784,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887966.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2150T>C",
"hgvs_p": "p.Ile717Thr",
"transcript": "NM_001413845.1",
"protein_id": "NP_001400774.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 773,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413845.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2150T>C",
"hgvs_p": "p.Ile717Thr",
"transcript": "ENST00000887927.1",
"protein_id": "ENSP00000557986.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 773,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887927.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2147T>C",
"hgvs_p": "p.Ile716Thr",
"transcript": "NM_001413846.1",
"protein_id": "NP_001400775.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 772,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413846.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2147T>C",
"hgvs_p": "p.Ile716Thr",
"transcript": "ENST00000887945.1",
"protein_id": "ENSP00000558004.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 772,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887945.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2063T>C",
"hgvs_p": "p.Ile688Thr",
"transcript": "ENST00000887960.1",
"protein_id": "ENSP00000558019.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 771,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887960.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2144T>C",
"hgvs_p": "p.Ile715Thr",
"transcript": "ENST00000950785.1",
"protein_id": "ENSP00000620844.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 771,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950785.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2060T>C",
"hgvs_p": "p.Ile687Thr",
"transcript": "ENST00000913382.1",
"protein_id": "ENSP00000583441.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 770,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913382.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2048T>C",
"hgvs_p": "p.Ile683Thr",
"transcript": "NM_001413847.1",
"protein_id": "NP_001400776.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 766,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413847.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2048T>C",
"hgvs_p": "p.Ile683Thr",
"transcript": "ENST00000887970.1",
"protein_id": "ENSP00000558029.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 766,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887970.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2045T>C",
"hgvs_p": "p.Ile682Thr",
"transcript": "ENST00000887950.1",
"protein_id": "ENSP00000558009.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 765,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887950.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2108T>C",
"hgvs_p": "p.Ile703Thr",
"transcript": "NM_001413848.1",
"protein_id": "NP_001400777.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 759,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413848.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2108T>C",
"hgvs_p": "p.Ile703Thr",
"transcript": "ENST00000887973.1",
"protein_id": "ENSP00000558032.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 759,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887973.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2108T>C",
"hgvs_p": "p.Ile703Thr",
"transcript": "ENST00000887975.1",
"protein_id": "ENSP00000558034.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 759,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887975.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2105T>C",
"hgvs_p": "p.Ile702Thr",
"transcript": "NM_001413849.1",
"protein_id": "NP_001400778.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 758,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413849.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2105T>C",
"hgvs_p": "p.Ile702Thr",
"transcript": "ENST00000950787.1",
"protein_id": "ENSP00000620846.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 758,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950787.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2102T>C",
"hgvs_p": "p.Ile701Thr",
"transcript": "NM_001413850.1",
"protein_id": "NP_001400779.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 757,
"cds_start": 2102,
"cds_end": null,
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}