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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: 2-178723230-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178723230&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178723230,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001267550.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.21777T>G",
"hgvs_p": "p.Ile7259Met",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 7259,
"aa_end": null,
"aa_length": 35991,
"cds_start": 21777,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 22002,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.21777T>G",
"hgvs_p": "p.Ile7259Met",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 7259,
"aa_end": null,
"aa_length": 35991,
"cds_start": 21777,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 22002,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.21777T>G",
"hgvs_p": "p.Ile7259Met",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 7259,
"aa_end": null,
"aa_length": 35939,
"cds_start": 21777,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 22002,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.21501T>G",
"hgvs_p": "p.Ile7167Met",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 7167,
"aa_end": null,
"aa_length": 35899,
"cds_start": 21501,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 21726,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.21777T>G",
"hgvs_p": "p.Ile7259Met",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 7259,
"aa_end": null,
"aa_length": 35805,
"cds_start": 21777,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 22002,
"cdna_end": null,
"cdna_length": 108666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.21777T>G",
"hgvs_p": "p.Ile7259Met",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 7259,
"aa_end": null,
"aa_length": 35991,
"cds_start": 21777,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 22266,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.21777T>G",
"hgvs_p": "p.Ile7259Met",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 7259,
"aa_end": null,
"aa_length": 35963,
"cds_start": 21777,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 22002,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 72,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.21363T>G",
"hgvs_p": "p.Ile7121Met",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 7121,
"aa_end": null,
"aa_length": 35853,
"cds_start": 21363,
"cds_end": null,
"cds_length": 107562,
"cdna_start": 21588,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.20826T>G",
"hgvs_p": "p.Ile6942Met",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 6942,
"aa_end": null,
"aa_length": 34350,
"cds_start": 20826,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 21051,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.20826T>G",
"hgvs_p": "p.Ile6942Met",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
"transcript_support_level": 5,
"aa_start": 6942,
"aa_end": null,
"aa_length": 34350,
"cds_start": 20826,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 21051,
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"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 72,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.18045T>G",
"hgvs_p": "p.Ile6015Met",
"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
"transcript_support_level": null,
"aa_start": 6015,
"aa_end": null,
"aa_length": 33423,
"cds_start": 18045,
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"cdna_start": 18270,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 72,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.18045T>G",
"hgvs_p": "p.Ile6015Met",
"transcript": "ENST00000342992.11",
"protein_id": "ENSP00000343764.6",
"transcript_support_level": 5,
"aa_start": 6015,
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},
{
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"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 359,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.20829T>G",
"hgvs_p": "p.Ile6943Met",
"transcript": "XM_017004819.1",
"protein_id": "XP_016860308.1",
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},
{
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"strand": false,
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],
"exon_rank": 73,
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"exon_count": 317,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.20829T>G",
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"transcript": "XM_047445660.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.20829T>G",
"hgvs_p": "p.Ile6943Met",
"transcript": "XM_047445661.1",
"protein_id": "XP_047301617.1",
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},
{
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"strand": false,
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],
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"exon_count": 310,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.20829T>G",
"hgvs_p": "p.Ile6943Met",
"transcript": "XM_024453095.1",
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},
{
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"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 336,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.18048T>G",
"hgvs_p": "p.Ile6016Met",
"transcript": "XM_017004820.1",
"protein_id": "XP_016860309.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 72,
"exon_rank_end": null,
"exon_count": 336,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.18045T>G",
"hgvs_p": "p.Ile6015Met",
"transcript": "XM_017004821.1",
"protein_id": "XP_016860310.1",
"transcript_support_level": null,
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},
{
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],
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"exon_rank_end": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.20829T>G",
"hgvs_p": "p.Ile6943Met",
"transcript": "XM_047445663.1",
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},
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],
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"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.20829T>G",
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"transcript": "XM_047445665.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.20829T>G",
"hgvs_p": "p.Ile6943Met",
"transcript": "XM_047445668.1",
"protein_id": "XP_047301624.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 274,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.20829T>G",
"hgvs_p": "p.Ile6943Met",
"transcript": "XM_017004822.1",
"protein_id": "XP_016860311.1",
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": 73,
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