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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: 2-85553488-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85553488&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85553488,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000821.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Ser300Phe",
"transcript": "NM_000821.7",
"protein_id": "NP_000812.2",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 758,
"cds_start": 899,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000233838.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000821.7"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Ser300Phe",
"transcript": "ENST00000233838.9",
"protein_id": "ENSP00000233838.3",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 758,
"cds_start": 899,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000821.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233838.9"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Ser300Phe",
"transcript": "ENST00000911478.1",
"protein_id": "ENSP00000581537.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 768,
"cds_start": 899,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911478.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Ser300Phe",
"transcript": "ENST00000896458.1",
"protein_id": "ENSP00000566517.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 756,
"cds_start": 899,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896458.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Ser300Phe",
"transcript": "ENST00000942085.1",
"protein_id": "ENSP00000612144.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 754,
"cds_start": 899,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942085.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.830C>T",
"hgvs_p": "p.Ser277Phe",
"transcript": "ENST00000689276.1",
"protein_id": "ENSP00000510012.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 735,
"cds_start": 830,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689276.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Ser300Phe",
"transcript": "ENST00000896463.1",
"protein_id": "ENSP00000566522.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 735,
"cds_start": 899,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896463.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Ser300Phe",
"transcript": "ENST00000942081.1",
"protein_id": "ENSP00000612140.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 712,
"cds_start": 899,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942081.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ser243Phe",
"transcript": "ENST00000896461.1",
"protein_id": "ENSP00000566520.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 705,
"cds_start": 728,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896461.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ser243Phe",
"transcript": "NM_001142269.4",
"protein_id": "NP_001135741.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 701,
"cds_start": 728,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142269.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ser243Phe",
"transcript": "ENST00000430215.7",
"protein_id": "ENSP00000408045.3",
"transcript_support_level": 2,
"aa_start": 243,
"aa_end": null,
"aa_length": 701,
"cds_start": 728,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430215.7"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ser243Phe",
"transcript": "ENST00000896459.1",
"protein_id": "ENSP00000566518.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 699,
"cds_start": 728,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896459.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ser243Phe",
"transcript": "ENST00000942083.1",
"protein_id": "ENSP00000612142.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 697,
"cds_start": 728,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942083.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ser243Phe",
"transcript": "ENST00000896465.1",
"protein_id": "ENSP00000566524.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 678,
"cds_start": 728,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896465.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Ser210Phe",
"transcript": "ENST00000896464.1",
"protein_id": "ENSP00000566523.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 666,
"cds_start": 629,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896464.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ser243Phe",
"transcript": "ENST00000942084.1",
"protein_id": "ENSP00000612143.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 655,
"cds_start": 728,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942084.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Phe",
"transcript": "ENST00000896462.1",
"protein_id": "ENSP00000566521.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 586,
"cds_start": 383,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896462.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Phe",
"transcript": "ENST00000690595.1",
"protein_id": "ENSP00000508979.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 533,
"cds_start": 224,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690595.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Phe",
"transcript": "ENST00000693287.1",
"protein_id": "ENSP00000510264.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 530,
"cds_start": 215,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693287.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.212C>T",
"hgvs_p": "p.Ser71Phe",
"transcript": "ENST00000693681.1",
"protein_id": "ENSP00000510789.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 529,
"cds_start": 212,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693681.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Ser18Phe",
"transcript": "ENST00000896460.1",
"protein_id": "ENSP00000566519.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 476,
"cds_start": 53,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896460.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "GGCX",
"gene_hgnc_id": 4247,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Ser18Phe",
"transcript": "ENST00000942082.1",
"protein_id": "ENSP00000612141.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 474,
"cds_start": 53,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"clinvar_classification": "Uncertain significance",
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}