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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: 6-43512217-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43512217&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43512217,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015388.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.1003G>C",
"hgvs_p": "p.Val335Leu",
"transcript": "NM_015388.4",
"protein_id": "NP_056203.2",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 350,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372422.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015388.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.1003G>C",
"hgvs_p": "p.Val335Leu",
"transcript": "ENST00000372422.7",
"protein_id": "ENSP00000361499.2",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 350,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015388.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372422.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.1102G>C",
"hgvs_p": "p.Val368Leu",
"transcript": "ENST00000940674.1",
"protein_id": "ENSP00000610733.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 383,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940674.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.1021G>C",
"hgvs_p": "p.Val341Leu",
"transcript": "ENST00000506469.5",
"protein_id": "ENSP00000425494.1",
"transcript_support_level": 5,
"aa_start": 341,
"aa_end": null,
"aa_length": 356,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506469.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Val339Leu",
"transcript": "ENST00000882376.1",
"protein_id": "ENSP00000552435.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 354,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882376.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.982G>C",
"hgvs_p": "p.Val328Leu",
"transcript": "ENST00000882377.1",
"protein_id": "ENSP00000552436.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 343,
"cds_start": 982,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882377.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Val316Leu",
"transcript": "ENST00000940668.1",
"protein_id": "ENSP00000610727.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 331,
"cds_start": 946,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940668.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.913G>C",
"hgvs_p": "p.Val305Leu",
"transcript": "ENST00000940670.1",
"protein_id": "ENSP00000610729.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 320,
"cds_start": 913,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940670.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.910G>C",
"hgvs_p": "p.Val304Leu",
"transcript": "ENST00000882379.1",
"protein_id": "ENSP00000552438.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 319,
"cds_start": 910,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882379.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.889G>C",
"hgvs_p": "p.Val297Leu",
"transcript": "ENST00000940672.1",
"protein_id": "ENSP00000610731.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 312,
"cds_start": 889,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940672.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.886G>C",
"hgvs_p": "p.Val296Leu",
"transcript": "ENST00000882378.1",
"protein_id": "ENSP00000552437.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 311,
"cds_start": 886,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882378.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.880G>C",
"hgvs_p": "p.Val294Leu",
"transcript": "ENST00000952244.1",
"protein_id": "ENSP00000622303.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 309,
"cds_start": 880,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952244.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.871G>C",
"hgvs_p": "p.Val291Leu",
"transcript": "ENST00000882380.1",
"protein_id": "ENSP00000552439.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 306,
"cds_start": 871,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882380.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Val284Leu",
"transcript": "ENST00000940671.1",
"protein_id": "ENSP00000610730.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 299,
"cds_start": 850,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940671.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Val281Leu",
"transcript": "ENST00000882375.1",
"protein_id": "ENSP00000552434.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 296,
"cds_start": 841,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882375.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.796G>C",
"hgvs_p": "p.Val266Leu",
"transcript": "ENST00000952245.1",
"protein_id": "ENSP00000622304.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 281,
"cds_start": 796,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952245.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.703G>C",
"hgvs_p": "p.Val235Leu",
"transcript": "ENST00000940673.1",
"protein_id": "ENSP00000610732.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 250,
"cds_start": 703,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940673.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.136G>C",
"hgvs_p": "p.Val46Leu",
"transcript": "ENST00000940669.1",
"protein_id": "ENSP00000610728.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 61,
"cds_start": 136,
"cds_end": null,
"cds_length": 186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940669.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "c.898G>C",
"hgvs_p": "p.Val300Leu",
"transcript": "XM_047418608.1",
"protein_id": "XP_047274564.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 315,
"cds_start": 898,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418608.1"
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.-225-768C>G",
"hgvs_p": null,
"transcript": "ENST00000646188.1",
"protein_id": "ENSP00000496001.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646188.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.-97+2409C>G",
"hgvs_p": null,
"transcript": "ENST00000428025.6",
"protein_id": "ENSP00000395401.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 123,
"cds_start": null,
"cds_end": null,
"cds_length": 373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428025.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YIPF3",
"gene_hgnc_id": 21023,
"hgvs_c": "n.*903G>C",
"hgvs_p": null,
"transcript": "ENST00000490447.6",
"protein_id": "ENSP00000424629.1",
"transcript_support_level": 2,
"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,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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{
"score": 0,
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"inheritance_mode": "AR,AD",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}