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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: X-139741062-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=139741062&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 139741062,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_173694.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3063A>G",
"hgvs_p": "p.Ile1021Met",
"transcript": "NM_001353812.2",
"protein_id": "NP_001340741.2",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3063,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 4074,
"cdna_end": null,
"cdna_length": 7019,
"mane_select": "ENST00000682941.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353812.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3063A>G",
"hgvs_p": "p.Ile1021Met",
"transcript": "ENST00000682941.1",
"protein_id": "ENSP00000507250.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3063,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 4074,
"cdna_end": null,
"cdna_length": 7019,
"mane_select": "NM_001353812.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682941.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3072A>G",
"hgvs_p": "p.Ile1024Met",
"transcript": "ENST00000327569.7",
"protein_id": "ENSP00000332756.3",
"transcript_support_level": 1,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3072,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 3171,
"cdna_end": null,
"cdna_length": 6115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327569.7"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3072A>G",
"hgvs_p": "p.Ile1024Met",
"transcript": "ENST00000361648.6",
"protein_id": "ENSP00000355165.2",
"transcript_support_level": 1,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3072,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 3171,
"cdna_end": null,
"cdna_length": 6010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361648.6"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3072A>G",
"hgvs_p": "p.Ile1024Met",
"transcript": "NM_173694.5",
"protein_id": "NP_775965.3",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3072,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 3124,
"cdna_end": null,
"cdna_length": 6069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173694.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3063A>G",
"hgvs_p": "p.Ile1021Met",
"transcript": "NM_001353811.2",
"protein_id": "NP_001340740.2",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3063,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 4074,
"cdna_end": null,
"cdna_length": 7005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353811.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3072A>G",
"hgvs_p": "p.Ile1024Met",
"transcript": "NM_001010986.3",
"protein_id": "NP_001010986.2",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3072,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 3124,
"cdna_end": null,
"cdna_length": 5964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010986.3"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3063A>G",
"hgvs_p": "p.Ile1021Met",
"transcript": "NM_001353810.2",
"protein_id": "NP_001340739.2",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1116,
"cds_start": 3063,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 3593,
"cdna_end": null,
"cdna_length": 6433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353810.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3054A>G",
"hgvs_p": "p.Ile1018Met",
"transcript": "ENST00000370557.5",
"protein_id": "ENSP00000359588.1",
"transcript_support_level": 5,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1113,
"cds_start": 3054,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 4082,
"cdna_end": null,
"cdna_length": 6924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370557.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.2991A>G",
"hgvs_p": "p.Ile997Met",
"transcript": "ENST00000422228.2",
"protein_id": "ENSP00000394573.2",
"transcript_support_level": 3,
"aa_start": 997,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2991,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 4021,
"cdna_end": null,
"cdna_length": 6965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422228.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.264A>G",
"hgvs_p": "p.Ile88Met",
"transcript": "ENST00000450801.1",
"protein_id": "ENSP00000391259.1",
"transcript_support_level": 2,
"aa_start": 88,
"aa_end": null,
"aa_length": 172,
"cds_start": 264,
"cds_end": null,
"cds_length": 519,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450801.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.168A>G",
"hgvs_p": "p.Ile56Met",
"transcript": "ENST00000433868.5",
"protein_id": "ENSP00000397923.1",
"transcript_support_level": 5,
"aa_start": 56,
"aa_end": null,
"aa_length": 164,
"cds_start": 168,
"cds_end": null,
"cds_length": 495,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 3113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433868.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3135A>G",
"hgvs_p": "p.Ile1045Met",
"transcript": "XM_047442016.1",
"protein_id": "XP_047297972.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1153,
"cds_start": 3135,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 3145,
"cdna_end": null,
"cdna_length": 3474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442016.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3135A>G",
"hgvs_p": "p.Ile1045Met",
"transcript": "XM_047442017.1",
"protein_id": "XP_047297973.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1149,
"cds_start": 3135,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 3143,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442017.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3135A>G",
"hgvs_p": "p.Ile1045Met",
"transcript": "XM_047442018.1",
"protein_id": "XP_047297974.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3135,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 3143,
"cdna_end": null,
"cdna_length": 5983,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442018.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3063A>G",
"hgvs_p": "p.Ile1021Met",
"transcript": "XM_047442019.1",
"protein_id": "XP_047297975.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3063,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3593,
"cdna_end": null,
"cdna_length": 3922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442019.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3063A>G",
"hgvs_p": "p.Ile1021Met",
"transcript": "XM_047442020.1",
"protein_id": "XP_047297976.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3063,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3161,
"cdna_end": null,
"cdna_length": 3490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442020.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3063A>G",
"hgvs_p": "p.Ile1021Met",
"transcript": "XM_047442021.1",
"protein_id": "XP_047297977.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3063,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3147,
"cdna_end": null,
"cdna_length": 3476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442021.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3135A>G",
"hgvs_p": "p.Ile1045Met",
"transcript": "XM_047442022.1",
"protein_id": "XP_047297978.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3135,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3143,
"cdna_end": null,
"cdna_length": 3449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442022.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3045A>G",
"hgvs_p": "p.Ile1015Met",
"transcript": "XM_047442023.1",
"protein_id": "XP_047297979.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1123,
"cds_start": 3045,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 4688,
"cdna_end": null,
"cdna_length": 5017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442023.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3063A>G",
"hgvs_p": "p.Ile1021Met",
"transcript": "XM_047442024.1",
"protein_id": "XP_047297980.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1116,
"cds_start": 3063,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 3161,
"cdna_end": null,
"cdna_length": 6001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442024.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP11C",
"gene_hgnc_id": 13554,
"hgvs_c": "c.3000A>G",
"hgvs_p": "p.Ile1000Met",
"transcript": "XM_047442025.1",
"protein_id": "XP_047297981.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
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{
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{
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{
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{
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"biotype": "pseudogene",
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
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{
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],
"verdict": "Likely_benign",
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"effects": [
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],
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],
"clinvar_disease": "X-linked congenital hemolytic anemia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "X-linked congenital hemolytic anemia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}