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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: 5-58974915-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=58974915&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 58974915,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000340635.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.2179C>T",
"hgvs_p": "p.Arg727Trp",
"transcript": "NM_001104631.2",
"protein_id": "NP_001098101.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 809,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 2283,
"cdna_end": null,
"cdna_length": 8160,
"mane_select": "ENST00000340635.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.2179C>T",
"hgvs_p": "p.Arg727Trp",
"transcript": "ENST00000340635.11",
"protein_id": "ENSP00000345502.6",
"transcript_support_level": 1,
"aa_start": 727,
"aa_end": null,
"aa_length": 809,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 2283,
"cdna_end": null,
"cdna_length": 8160,
"mane_select": "NM_001104631.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.1996C>T",
"hgvs_p": "p.Arg666Trp",
"transcript": "ENST00000502484.6",
"protein_id": "ENSP00000423094.2",
"transcript_support_level": 1,
"aa_start": 666,
"aa_end": null,
"aa_length": 748,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2220,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.1987C>T",
"hgvs_p": "p.Arg663Trp",
"transcript": "ENST00000507116.6",
"protein_id": "ENSP00000424852.1",
"transcript_support_level": 1,
"aa_start": 663,
"aa_end": null,
"aa_length": 745,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 8203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.1813C>T",
"hgvs_p": "p.Arg605Trp",
"transcript": "ENST00000405755.6",
"protein_id": "ENSP00000384806.2",
"transcript_support_level": 1,
"aa_start": 605,
"aa_end": null,
"aa_length": 687,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 2294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.1789C>T",
"hgvs_p": "p.Arg597Trp",
"transcript": "ENST00000503258.5",
"protein_id": "ENSP00000425605.1",
"transcript_support_level": 1,
"aa_start": 597,
"aa_end": null,
"aa_length": 679,
"cds_start": 1789,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 2506,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.1771C>T",
"hgvs_p": "p.Arg591Trp",
"transcript": "ENST00000360047.9",
"protein_id": "ENSP00000353152.5",
"transcript_support_level": 1,
"aa_start": 591,
"aa_end": null,
"aa_length": 673,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 3122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.1306C>T",
"hgvs_p": "p.Arg436Trp",
"transcript": "ENST00000317118.12",
"protein_id": "ENSP00000321739.8",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 518,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1702,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425Trp",
"transcript": "ENST00000358923.10",
"protein_id": "ENSP00000351800.6",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 507,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 2969,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "n.1915C>T",
"hgvs_p": null,
"transcript": "ENST00000515011.5",
"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": 2175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.1996C>T",
"hgvs_p": "p.Arg666Trp",
"transcript": "NM_001165899.2",
"protein_id": "NP_001159371.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 748,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2209,
"cdna_end": null,
"cdna_length": 8086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.1996C>T",
"hgvs_p": "p.Arg666Trp",
"transcript": "NM_001364599.1",
"protein_id": "NP_001351528.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 748,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2233,
"cdna_end": null,
"cdna_length": 8110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.1987C>T",
"hgvs_p": "p.Arg663Trp",
"transcript": "NM_001197218.2",
"protein_id": "NP_001184147.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 745,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 8203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.1966C>T",
"hgvs_p": "p.Arg656Trp",
"transcript": "NM_001349241.2",
"protein_id": "NP_001336170.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 738,
"cds_start": 1966,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2282,
"cdna_end": null,
"cdna_length": 8159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.1849C>T",
"hgvs_p": "p.Arg617Trp",
"transcript": "NM_001349242.2",
"protein_id": "NP_001336171.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 699,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2270,
"cdna_end": null,
"cdna_length": 8147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.1849C>T",
"hgvs_p": "p.Arg617Trp",
"transcript": "ENST00000636120.1",
"protein_id": "ENSP00000490821.1",
"transcript_support_level": 5,
"aa_start": 617,
"aa_end": null,
"aa_length": 699,
"cds_start": 1849,
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"cdna_start": 2031,
"cdna_end": null,
"cdna_length": 6659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.1813C>T",
"hgvs_p": "p.Arg605Trp",
"transcript": "NM_001197219.2",
"protein_id": "NP_001184148.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 687,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1937,
"cdna_end": null,
"cdna_length": 7814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.1789C>T",
"hgvs_p": "p.Arg597Trp",
"transcript": "NM_001197220.2",
"protein_id": "NP_001184149.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 679,
"cds_start": 1789,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 2502,
"cdna_end": null,
"cdna_length": 8379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.1771C>T",
"hgvs_p": "p.Arg591Trp",
"transcript": "NM_006203.5",
"protein_id": "NP_006194.2",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 673,
"cds_start": 1771,
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"cdna_start": 1900,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.1507C>T",
"hgvs_p": "p.Arg503Trp",
"transcript": "NM_001197222.2",
"protein_id": "NP_001184151.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 585,
"cds_start": 1507,
"cds_end": null,
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"cdna_start": 1876,
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"cdna_length": 7753,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471Trp",
"transcript": "NM_001349243.2",
"protein_id": "NP_001336172.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 553,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 8085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
"gene_hgnc_id": 8783,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471Trp",
"transcript": "NM_001364604.1",
"protein_id": "NP_001351533.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 553,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 2947,
"cdna_end": null,
"cdna_length": 8824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4D",
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}