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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: 8-143589117-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143589117&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143589117,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000618139.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.965A>C",
"hgvs_p": "p.Tyr322Ser",
"transcript": "NM_001130053.5",
"protein_id": "NP_001123525.3",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 647,
"cds_start": 965,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 2090,
"mane_select": "ENST00000618139.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.965A>C",
"hgvs_p": "p.Tyr322Ser",
"transcript": "ENST00000618139.4",
"protein_id": "ENSP00000484536.2",
"transcript_support_level": 5,
"aa_start": 322,
"aa_end": null,
"aa_length": 647,
"cds_start": 965,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 2090,
"mane_select": "NM_001130053.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1115A>C",
"hgvs_p": "p.Tyr372Ser",
"transcript": "ENST00000532741.5",
"protein_id": "ENSP00000434070.1",
"transcript_support_level": 1,
"aa_start": 372,
"aa_end": null,
"aa_length": 697,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1344,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.965A>C",
"hgvs_p": "p.Tyr322Ser",
"transcript": "ENST00000442189.6",
"protein_id": "ENSP00000391944.2",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 647,
"cds_start": 965,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 2207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.-7-2265A>C",
"hgvs_p": null,
"transcript": "ENST00000395119.7",
"protein_id": "ENSP00000378551.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.-7-2265A>C",
"hgvs_p": null,
"transcript": "ENST00000528610.5",
"protein_id": "ENSP00000431763.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 257,
"cds_start": -4,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.965A>C",
"hgvs_p": "p.Tyr322Ser",
"transcript": "NM_032378.7",
"protein_id": "NP_115754.4",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 647,
"cds_start": 965,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 2207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.965A>C",
"hgvs_p": "p.Tyr322Ser",
"transcript": "ENST00000423316.7",
"protein_id": "ENSP00000410059.3",
"transcript_support_level": 5,
"aa_start": 322,
"aa_end": null,
"aa_length": 362,
"cds_start": 965,
"cds_end": null,
"cds_length": 1091,
"cdna_start": 1624,
"cdna_end": null,
"cdna_length": 1750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Tyr35Ser",
"transcript": "ENST00000530616.5",
"protein_id": "ENSP00000431833.1",
"transcript_support_level": 3,
"aa_start": 35,
"aa_end": null,
"aa_length": 209,
"cds_start": 104,
"cds_end": null,
"cds_length": 630,
"cdna_start": 106,
"cdna_end": null,
"cdna_length": 749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1088A>C",
"hgvs_p": "p.Tyr363Ser",
"transcript": "XM_047421420.1",
"protein_id": "XP_047277376.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 688,
"cds_start": 1088,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 5948,
"cdna_end": null,
"cdna_length": 6991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1088A>C",
"hgvs_p": "p.Tyr363Ser",
"transcript": "XM_047421421.1",
"protein_id": "XP_047277377.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 688,
"cds_start": 1088,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 3588,
"cdna_end": null,
"cdna_length": 4631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1088A>C",
"hgvs_p": "p.Tyr363Ser",
"transcript": "XM_047421422.1",
"protein_id": "XP_047277378.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 688,
"cds_start": 1088,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 2074,
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"cdna_length": 3117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1088A>C",
"hgvs_p": "p.Tyr363Ser",
"transcript": "XM_047421423.1",
"protein_id": "XP_047277379.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 688,
"cds_start": 1088,
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"cds_length": 2067,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1088A>C",
"hgvs_p": "p.Tyr363Ser",
"transcript": "XM_006716519.5",
"protein_id": "XP_006716582.3",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1088A>C",
"hgvs_p": "p.Tyr363Ser",
"transcript": "XM_006716520.5",
"protein_id": "XP_006716583.3",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 664,
"cds_start": 1088,
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"cdna_start": 5948,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1088A>C",
"hgvs_p": "p.Tyr363Ser",
"transcript": "XM_047421424.1",
"protein_id": "XP_047277380.1",
"transcript_support_level": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.968A>C",
"hgvs_p": "p.Tyr323Ser",
"transcript": "XM_047421425.1",
"protein_id": "XP_047277381.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 648,
"cds_start": 968,
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"cds_length": 1947,
"cdna_start": 4488,
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"cdna_length": 5531,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.965A>C",
"hgvs_p": "p.Tyr322Ser",
"transcript": "XM_005250823.1",
"protein_id": "XP_005250880.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 647,
"cds_start": 965,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1033,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.965A>C",
"hgvs_p": "p.Tyr322Ser",
"transcript": "XM_006716522.2",
"protein_id": "XP_006716585.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
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"feature": null
},
{
"aa_ref": "Y",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.965A>C",
"hgvs_p": "p.Tyr322Ser",
"transcript": "XM_006716524.2",
"protein_id": "XP_006716587.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 647,
"cds_start": 965,
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"cdna_start": 5757,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.965A>C",
"hgvs_p": "p.Tyr322Ser",
"transcript": "XM_047421426.1",
"protein_id": "XP_047277382.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 647,
"cds_start": 965,
"cds_end": null,
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"cdna_start": 7429,
"cdna_end": null,
"cdna_length": 8472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.965A>C",
"hgvs_p": "p.Tyr322Ser",
"transcript": "XM_047421427.1",
"protein_id": "XP_047277383.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 647,
"cds_start": 965,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 5521,
"cdna_end": null,
"cdna_length": 6564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
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