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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: 19-4200109-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4200109&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4200109,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001393552.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"transcript": "NM_001393985.1",
"protein_id": "NP_001380914.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 1146,
"cds_start": 281,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318934.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393985.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"transcript": "ENST00000318934.9",
"protein_id": "ENSP00000321731.4",
"transcript_support_level": 5,
"aa_start": 94,
"aa_end": null,
"aa_length": 1146,
"cds_start": 281,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001393985.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318934.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ala65Val",
"transcript": "ENST00000597689.5",
"protein_id": "ENSP00000470227.1",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 838,
"cds_start": 194,
"cds_end": null,
"cds_length": 2519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597689.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Ala184Val",
"transcript": "ENST00000262970.9",
"protein_id": "ENSP00000262970.4",
"transcript_support_level": 5,
"aa_start": 184,
"aa_end": null,
"aa_length": 1236,
"cds_start": 551,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262970.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"transcript": "NM_001393552.1",
"protein_id": "NP_001380481.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 1155,
"cds_start": 281,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393552.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"transcript": "ENST00000966466.1",
"protein_id": "ENSP00000636525.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 1155,
"cds_start": 281,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966466.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Ala100Val",
"transcript": "ENST00000966467.1",
"protein_id": "ENSP00000636526.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 1152,
"cds_start": 299,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966467.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"transcript": "NM_001393553.1",
"protein_id": "NP_001380482.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 1146,
"cds_start": 281,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393553.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"transcript": "NM_133475.1",
"protein_id": "NP_597732.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 1146,
"cds_start": 281,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133475.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"transcript": "ENST00000600132.5",
"protein_id": "ENSP00000471252.1",
"transcript_support_level": 5,
"aa_start": 94,
"aa_end": null,
"aa_length": 1146,
"cds_start": 281,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600132.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"transcript": "ENST00000870288.1",
"protein_id": "ENSP00000540347.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 1146,
"cds_start": 281,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870288.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"transcript": "ENST00000870289.1",
"protein_id": "ENSP00000540348.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 1146,
"cds_start": 281,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870289.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"transcript": "ENST00000966468.1",
"protein_id": "ENSP00000636527.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 1146,
"cds_start": 281,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966468.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"transcript": "ENST00000966470.1",
"protein_id": "ENSP00000636529.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 1146,
"cds_start": 281,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966470.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"transcript": "ENST00000966472.1",
"protein_id": "ENSP00000636531.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 1146,
"cds_start": 281,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966472.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"transcript": "ENST00000966473.1",
"protein_id": "ENSP00000636532.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 1146,
"cds_start": 281,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966473.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ala78Val",
"transcript": "NM_001393557.1",
"protein_id": "NP_001380486.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1130,
"cds_start": 233,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393557.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ala65Val",
"transcript": "ENST00000966471.1",
"protein_id": "ENSP00000636530.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 1126,
"cds_start": 194,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966471.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Ala66Val",
"transcript": "NM_001393556.1",
"protein_id": "NP_001380485.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 1118,
"cds_start": 197,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393556.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ala65Val",
"transcript": "NM_001393555.1",
"protein_id": "NP_001380484.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 1117,
"cds_start": 194,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393555.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ala65Val",
"transcript": "ENST00000966469.1",
"protein_id": "ENSP00000636528.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 1076,
"cds_start": 194,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966469.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.323C>T",
"hgvs_p": "p.Ala108Val",
"transcript": "XM_011527756.3",
"protein_id": "XP_011526058.2",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 1234,
"cds_start": 323,
"cds_end": null,
"cds_length": 3705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527756.3"
},
{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001393552.1",
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"effects": [
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{
"score": 1,
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"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}