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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: 3-46858413-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=46858413&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 46858413,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000258.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Glu177Gly",
"transcript": "NM_000258.3",
"protein_id": "NP_000249.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 195,
"cds_start": 530,
"cds_end": null,
"cds_length": 588,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 885,
"mane_select": "ENST00000292327.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000258.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Glu177Gly",
"transcript": "ENST00000292327.6",
"protein_id": "ENSP00000292327.4",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 195,
"cds_start": 530,
"cds_end": null,
"cds_length": 588,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 885,
"mane_select": "NM_000258.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292327.6"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Glu177Gly",
"transcript": "ENST00000395869.5",
"protein_id": "ENSP00000379210.1",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 195,
"cds_start": 530,
"cds_end": null,
"cds_length": 588,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 1012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395869.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.662A>G",
"hgvs_p": "p.Glu221Gly",
"transcript": "ENST00000713934.1",
"protein_id": "ENSP00000519231.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 239,
"cds_start": 662,
"cds_end": null,
"cds_length": 720,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 1016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713934.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.662A>G",
"hgvs_p": "p.Glu221Gly",
"transcript": "ENST00000957831.1",
"protein_id": "ENSP00000627890.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 239,
"cds_start": 662,
"cds_end": null,
"cds_length": 720,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957831.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.662A>G",
"hgvs_p": "p.Glu221Gly",
"transcript": "ENST00000957844.1",
"protein_id": "ENSP00000627903.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 239,
"cds_start": 662,
"cds_end": null,
"cds_length": 720,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 1140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957844.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Glu191Gly",
"transcript": "ENST00000957846.1",
"protein_id": "ENSP00000627905.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 209,
"cds_start": 572,
"cds_end": null,
"cds_length": 630,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957846.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.560A>G",
"hgvs_p": "p.Glu187Gly",
"transcript": "ENST00000877138.1",
"protein_id": "ENSP00000547197.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 205,
"cds_start": 560,
"cds_end": null,
"cds_length": 618,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877138.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Glu177Gly",
"transcript": "NM_001406937.1",
"protein_id": "NP_001393866.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 195,
"cds_start": 530,
"cds_end": null,
"cds_length": 588,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406937.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Glu177Gly",
"transcript": "NM_001406938.1",
"protein_id": "NP_001393867.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 195,
"cds_start": 530,
"cds_end": null,
"cds_length": 588,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 1157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406938.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Glu177Gly",
"transcript": "NM_001406939.1",
"protein_id": "NP_001393868.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 195,
"cds_start": 530,
"cds_end": null,
"cds_length": 588,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 1039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406939.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Glu177Gly",
"transcript": "ENST00000431168.2",
"protein_id": "ENSP00000393455.2",
"transcript_support_level": 5,
"aa_start": 177,
"aa_end": null,
"aa_length": 195,
"cds_start": 530,
"cds_end": null,
"cds_length": 588,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431168.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Glu177Gly",
"transcript": "ENST00000653454.1",
"protein_id": "ENSP00000499624.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 195,
"cds_start": 530,
"cds_end": null,
"cds_length": 588,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 1748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000653454.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Glu177Gly",
"transcript": "ENST00000654597.1",
"protein_id": "ENSP00000499406.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 195,
"cds_start": 530,
"cds_end": null,
"cds_length": 588,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 1880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000654597.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Glu177Gly",
"transcript": "ENST00000662933.1",
"protein_id": "ENSP00000499577.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 195,
"cds_start": 530,
"cds_end": null,
"cds_length": 588,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000662933.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Glu177Gly",
"transcript": "ENST00000713933.1",
"protein_id": "ENSP00000519230.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 195,
"cds_start": 530,
"cds_end": null,
"cds_length": 588,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713933.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Glu177Gly",
"transcript": "ENST00000877119.1",
"protein_id": "ENSP00000547178.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 195,
"cds_start": 530,
"cds_end": null,
"cds_length": 588,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 1303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877119.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Glu177Gly",
"transcript": "ENST00000877120.1",
"protein_id": "ENSP00000547179.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 195,
"cds_start": 530,
"cds_end": null,
"cds_length": 588,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877120.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Glu177Gly",
"transcript": "ENST00000877121.1",
"protein_id": "ENSP00000547180.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 195,
"cds_start": 530,
"cds_end": null,
"cds_length": 588,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 1504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877121.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Glu177Gly",
"transcript": "ENST00000877122.1",
"protein_id": "ENSP00000547181.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 195,
"cds_start": 530,
"cds_end": null,
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"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877122.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Glu177Gly",
"transcript": "ENST00000877123.1",
"protein_id": "ENSP00000547182.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 195,
"cds_start": 530,
"cds_end": null,
"cds_length": 588,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 3222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877123.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL3",
"gene_hgnc_id": 7584,
"hgvs_c": "c.530A>G",
"hgvs_p": "p.Glu177Gly",
"transcript": "ENST00000877124.1",
"protein_id": "ENSP00000547183.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 195,
"cds_start": 530,
"cds_end": null,
"cds_length": 588,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": null,
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],
"gene_symbol": "MYL3",
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"dbsnp": "rs193922391",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 59,
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"computational_score_selected": 0.9848041534423828,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "CardioboostCm",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.888,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9506,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.831,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP2,PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 4,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PP2",
"PP3_Moderate",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000258.3",
"gene_symbol": "MYL3",
"hgnc_id": 7584,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,SD",
"hgvs_c": "c.530A>G",
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}
],
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,Hypertrophic cardiomyopathy,Hypertrophic cardiomyopathy 8,MYL3-related disorder,Primary familial hypertrophic cardiomyopathy,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:12",
"phenotype_combined": "Primary familial hypertrophic cardiomyopathy|not specified|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|not provided|MYL3-related disorder|Hypertrophic cardiomyopathy 8",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}