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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: 14-21351121-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=21351121&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 21351121,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020366.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.3766C>G",
"hgvs_p": "p.Leu1256Val",
"transcript": "NM_020366.4",
"protein_id": "NP_065099.3",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3766,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000400017.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020366.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.3766C>G",
"hgvs_p": "p.Leu1256Val",
"transcript": "ENST00000400017.7",
"protein_id": "ENSP00000382895.2",
"transcript_support_level": 1,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3766,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020366.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400017.7"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2191C>G",
"hgvs_p": "p.Leu731Val",
"transcript": "ENST00000555587.5",
"protein_id": "ENSP00000451262.1",
"transcript_support_level": 1,
"aa_start": 731,
"aa_end": null,
"aa_length": 761,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555587.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1744C>G",
"hgvs_p": "p.Leu582Val",
"transcript": "ENST00000382933.8",
"protein_id": "ENSP00000372391.4",
"transcript_support_level": 1,
"aa_start": 582,
"aa_end": null,
"aa_length": 612,
"cds_start": 1744,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382933.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "n.*2113C>G",
"hgvs_p": null,
"transcript": "ENST00000555322.5",
"protein_id": "ENSP00000450662.1",
"transcript_support_level": 1,
"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": "ENST00000555322.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "n.*1779C>G",
"hgvs_p": null,
"transcript": "ENST00000555489.5",
"protein_id": "ENSP00000451044.1",
"transcript_support_level": 1,
"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": "ENST00000555489.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "n.*2113C>G",
"hgvs_p": null,
"transcript": "ENST00000555322.5",
"protein_id": "ENSP00000450662.1",
"transcript_support_level": 1,
"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": "ENST00000555322.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "n.*1779C>G",
"hgvs_p": null,
"transcript": "ENST00000555489.5",
"protein_id": "ENSP00000451044.1",
"transcript_support_level": 1,
"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": "ENST00000555489.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.3652C>G",
"hgvs_p": "p.Leu1218Val",
"transcript": "ENST00000557771.5",
"protein_id": "ENSP00000451219.1",
"transcript_support_level": 5,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1248,
"cds_start": 3652,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557771.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2737C>G",
"hgvs_p": "p.Leu913Val",
"transcript": "ENST00000556336.5",
"protein_id": "ENSP00000450445.1",
"transcript_support_level": 5,
"aa_start": 913,
"aa_end": null,
"aa_length": 943,
"cds_start": 2737,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556336.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2692C>G",
"hgvs_p": "p.Leu898Val",
"transcript": "NM_001377948.1",
"protein_id": "NP_001364877.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 928,
"cds_start": 2692,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377948.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1852C>G",
"hgvs_p": "p.Leu618Val",
"transcript": "NM_001377949.1",
"protein_id": "NP_001364878.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 648,
"cds_start": 1852,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377949.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1744C>G",
"hgvs_p": "p.Leu582Val",
"transcript": "NM_001377523.1",
"protein_id": "NP_001364452.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 612,
"cds_start": 1744,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377523.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1744C>G",
"hgvs_p": "p.Leu582Val",
"transcript": "NM_001377950.1",
"protein_id": "NP_001364879.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 612,
"cds_start": 1744,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377950.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1249C>G",
"hgvs_p": "p.Leu417Val",
"transcript": "NM_001377951.1",
"protein_id": "NP_001364880.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 447,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377951.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2695C>G",
"hgvs_p": "p.Leu899Val",
"transcript": "XM_005267879.2",
"protein_id": "XP_005267936.1",
"transcript_support_level": null,
"aa_start": 899,
"aa_end": null,
"aa_length": 929,
"cds_start": 2695,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267879.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2692C>G",
"hgvs_p": "p.Leu898Val",
"transcript": "XM_011536978.1",
"protein_id": "XP_011535280.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 928,
"cds_start": 2692,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536978.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2689C>G",
"hgvs_p": "p.Leu897Val",
"transcript": "XM_024449663.1",
"protein_id": "XP_024305431.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 927,
"cds_start": 2689,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449663.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2662C>G",
"hgvs_p": "p.Leu888Val",
"transcript": "XM_005267880.2",
"protein_id": "XP_005267937.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 918,
"cds_start": 2662,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267880.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2479C>G",
"hgvs_p": "p.Leu827Val",
"transcript": "XM_011536979.1",
"protein_id": "XP_011535281.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 857,
"cds_start": 2479,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536979.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2200C>G",
"hgvs_p": "p.Leu734Val",
"transcript": "XM_011536981.1",
"protein_id": "XP_011535283.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 764,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536981.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2197C>G",
"hgvs_p": "p.Leu733Val",
"transcript": "XM_017021473.2",
"protein_id": "XP_016876962.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 763,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
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{
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],
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"computational_score_selected": 0.0644521415233612,
"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": "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_score": -2,
"acmg_classification": "Likely_benign",
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{
"score": -2,
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"BP4_Strong"
],
"verdict": "Likely_benign",
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],
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],
"clinvar_disease": "Cone-rod dystrophy 13,Leber congenital amaurosis 6",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Cone-rod dystrophy 13;Leber congenital amaurosis 6",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}