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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: 18-58733476-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=58733476&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 58733476,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_006785.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.1302T>C",
"hgvs_p": "p.Tyr434Tyr",
"transcript": "NM_006785.4",
"protein_id": "NP_006776.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 824,
"cds_start": 1302,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000649217.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006785.4"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.1302T>C",
"hgvs_p": "p.Tyr434Tyr",
"transcript": "ENST00000649217.2",
"protein_id": "ENSP00000497997.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 824,
"cds_start": 1302,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006785.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649217.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.1269T>C",
"hgvs_p": "p.Tyr423Tyr",
"transcript": "ENST00000345724.7",
"protein_id": "ENSP00000304161.3",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 813,
"cds_start": 1269,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345724.7"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.1425T>C",
"hgvs_p": "p.Tyr475Tyr",
"transcript": "ENST00000968608.1",
"protein_id": "ENSP00000638667.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 865,
"cds_start": 1425,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968608.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.1302T>C",
"hgvs_p": "p.Tyr434Tyr",
"transcript": "ENST00000851939.1",
"protein_id": "ENSP00000521998.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 850,
"cds_start": 1302,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851939.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.1293T>C",
"hgvs_p": "p.Tyr431Tyr",
"transcript": "ENST00000968610.1",
"protein_id": "ENSP00000638669.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 821,
"cds_start": 1293,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968610.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.1269T>C",
"hgvs_p": "p.Tyr423Tyr",
"transcript": "NM_173844.3",
"protein_id": "NP_776216.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 813,
"cds_start": 1269,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173844.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.1236T>C",
"hgvs_p": "p.Tyr412Tyr",
"transcript": "ENST00000968614.1",
"protein_id": "ENSP00000638673.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 802,
"cds_start": 1236,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968614.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.1029T>C",
"hgvs_p": "p.Tyr343Tyr",
"transcript": "ENST00000968612.1",
"protein_id": "ENSP00000638671.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 733,
"cds_start": 1029,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968612.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.1026T>C",
"hgvs_p": "p.Tyr342Tyr",
"transcript": "ENST00000851940.1",
"protein_id": "ENSP00000521999.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 732,
"cds_start": 1026,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851940.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.966T>C",
"hgvs_p": "p.Tyr322Tyr",
"transcript": "ENST00000968611.1",
"protein_id": "ENSP00000638670.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 712,
"cds_start": 966,
"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": "ENST00000968611.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.933T>C",
"hgvs_p": "p.Tyr311Tyr",
"transcript": "ENST00000968613.1",
"protein_id": "ENSP00000638672.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 701,
"cds_start": 933,
"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": "ENST00000968613.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.729T>C",
"hgvs_p": "p.Tyr243Tyr",
"transcript": "ENST00000968609.1",
"protein_id": "ENSP00000638668.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 633,
"cds_start": 729,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968609.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.*82T>C",
"hgvs_p": null,
"transcript": "XM_011525794.2",
"protein_id": "XP_011524096.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 427,
"cds_start": null,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525794.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.650-8389T>C",
"hgvs_p": null,
"transcript": "ENST00000851941.1",
"protein_id": "ENSP00000522000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 506,
"cds_start": null,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851941.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "n.*464T>C",
"hgvs_p": null,
"transcript": "ENST00000648670.1",
"protein_id": "ENSP00000497173.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000648670.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "n.1171T>C",
"hgvs_p": null,
"transcript": "ENST00000649125.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000649125.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "n.906T>C",
"hgvs_p": null,
"transcript": "ENST00000649202.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000649202.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "n.25T>C",
"hgvs_p": null,
"transcript": "ENST00000649756.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000649756.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "n.1302T>C",
"hgvs_p": null,
"transcript": "ENST00000650045.1",
"protein_id": "ENSP00000497036.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650045.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "n.1156T>C",
"hgvs_p": null,
"transcript": "ENST00000697045.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000697045.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "n.454T>C",
"hgvs_p": null,
"transcript": "ENST00000697046.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000697046.1"
},
{
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"splice_prediction_selected": "Uncertain_significance",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Uncertain_significance",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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{
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"pathogenic_score": 2,
"criteria": [
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"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006785.4",
"gene_symbol": "MALT1",
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"effects": [
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],
"inheritance_mode": "AR",
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{
"score": 0,
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"BP6_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
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},
{
"score": 0,
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"BP6_Moderate"
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"effects": [
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],
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],
"clinvar_disease": "Combined immunodeficiency due to MALT1 deficiency",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Combined immunodeficiency due to MALT1 deficiency",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}