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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: 2-151506167-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151506167&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 151506167,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001271208.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 164,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23648C>G",
"hgvs_p": "p.Ser7883Trp",
"transcript": "NM_001164507.2",
"protein_id": "NP_001157979.2",
"transcript_support_level": null,
"aa_start": 7883,
"aa_end": null,
"aa_length": 8525,
"cds_start": 23648,
"cds_end": null,
"cds_length": 25578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000427231.7",
"biotype": "protein_coding",
"feature": "NM_001164507.2"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 164,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23648C>G",
"hgvs_p": "p.Ser7883Trp",
"transcript": "NM_001164508.2",
"protein_id": "NP_001157980.2",
"transcript_support_level": null,
"aa_start": 7883,
"aa_end": null,
"aa_length": 8525,
"cds_start": 23648,
"cds_end": null,
"cds_length": 25578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397345.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164508.2"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 164,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23648C>G",
"hgvs_p": "p.Ser7883Trp",
"transcript": "ENST00000397345.8",
"protein_id": "ENSP00000380505.3",
"transcript_support_level": 5,
"aa_start": 7883,
"aa_end": null,
"aa_length": 8525,
"cds_start": 23648,
"cds_end": null,
"cds_length": 25578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001164508.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397345.8"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 164,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23648C>G",
"hgvs_p": "p.Ser7883Trp",
"transcript": "ENST00000427231.7",
"protein_id": "ENSP00000416578.2",
"transcript_support_level": 5,
"aa_start": 7883,
"aa_end": null,
"aa_length": 8525,
"cds_start": 23648,
"cds_end": null,
"cds_length": 25578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_001164507.2",
"biotype": "protein_coding",
"feature": "ENST00000427231.7"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 165,
"exon_rank_end": null,
"exon_count": 183,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23753C>G",
"hgvs_p": "p.Ser7918Trp",
"transcript": "NM_001271208.2",
"protein_id": "NP_001258137.2",
"transcript_support_level": null,
"aa_start": 7918,
"aa_end": null,
"aa_length": 8560,
"cds_start": 23753,
"cds_end": null,
"cds_length": 25683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271208.2"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 137,
"exon_rank_end": null,
"exon_count": 150,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.18545C>G",
"hgvs_p": "p.Ser6182Trp",
"transcript": "NM_004543.5",
"protein_id": "NP_004534.3",
"transcript_support_level": null,
"aa_start": 6182,
"aa_end": null,
"aa_length": 6669,
"cds_start": 18545,
"cds_end": null,
"cds_length": 20010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004543.5"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 137,
"exon_rank_end": null,
"exon_count": 150,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.18545C>G",
"hgvs_p": "p.Ser6182Trp",
"transcript": "ENST00000409198.5",
"protein_id": "ENSP00000386259.1",
"transcript_support_level": 5,
"aa_start": 6182,
"aa_end": null,
"aa_length": 6669,
"cds_start": 18545,
"cds_end": null,
"cds_length": 20010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409198.5"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 164,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23648C>G",
"hgvs_p": "p.Ser7883Trp",
"transcript": "XM_005246590.3",
"protein_id": "XP_005246647.1",
"transcript_support_level": null,
"aa_start": 7883,
"aa_end": null,
"aa_length": 8494,
"cds_start": 23648,
"cds_end": null,
"cds_length": 25485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246590.3"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 164,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23648C>G",
"hgvs_p": "p.Ser7883Trp",
"transcript": "XM_005246591.3",
"protein_id": "XP_005246648.1",
"transcript_support_level": null,
"aa_start": 7883,
"aa_end": null,
"aa_length": 8494,
"cds_start": 23648,
"cds_end": null,
"cds_length": 25485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246591.3"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 164,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23648C>G",
"hgvs_p": "p.Ser7883Trp",
"transcript": "XM_005246592.3",
"protein_id": "XP_005246649.1",
"transcript_support_level": null,
"aa_start": 7883,
"aa_end": null,
"aa_length": 8494,
"cds_start": 23648,
"cds_end": null,
"cds_length": 25485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246592.3"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 164,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23648C>G",
"hgvs_p": "p.Ser7883Trp",
"transcript": "XM_005246593.3",
"protein_id": "XP_005246650.1",
"transcript_support_level": null,
"aa_start": 7883,
"aa_end": null,
"aa_length": 8494,
"cds_start": 23648,
"cds_end": null,
"cds_length": 25485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246593.3"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 164,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23648C>G",
"hgvs_p": "p.Ser7883Trp",
"transcript": "XM_005246594.3",
"protein_id": "XP_005246651.1",
"transcript_support_level": null,
"aa_start": 7883,
"aa_end": null,
"aa_length": 8494,
"cds_start": 23648,
"cds_end": null,
"cds_length": 25485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246594.3"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 163,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23537C>G",
"hgvs_p": "p.Ser7846Trp",
"transcript": "XM_017004177.2",
"protein_id": "XP_016859666.1",
"transcript_support_level": null,
"aa_start": 7846,
"aa_end": null,
"aa_length": 8488,
"cds_start": 23537,
"cds_end": null,
"cds_length": 25467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004177.2"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 164,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23648C>G",
"hgvs_p": "p.Ser7883Trp",
"transcript": "XM_005246596.3",
"protein_id": "XP_005246653.1",
"transcript_support_level": null,
"aa_start": 7883,
"aa_end": null,
"aa_length": 8463,
"cds_start": 23648,
"cds_end": null,
"cds_length": 25392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246596.3"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 164,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23648C>G",
"hgvs_p": "p.Ser7883Trp",
"transcript": "XM_005246597.3",
"protein_id": "XP_005246654.1",
"transcript_support_level": null,
"aa_start": 7883,
"aa_end": null,
"aa_length": 8463,
"cds_start": 23648,
"cds_end": null,
"cds_length": 25392,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246597.3"
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 164,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23648C>G",
"hgvs_p": "p.Ser7883Trp",
"transcript": "XM_005246598.3",
"protein_id": "XP_005246655.1",
"transcript_support_level": null,
"aa_start": 7883,
"aa_end": null,
"aa_length": 8463,
"cds_start": 23648,
"cds_end": null,
"cds_length": 25392,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246598.3"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 164,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23648C>G",
"hgvs_p": "p.Ser7883Trp",
"transcript": "XM_017004178.2",
"protein_id": "XP_016859667.1",
"transcript_support_level": null,
"aa_start": 7883,
"aa_end": null,
"aa_length": 8463,
"cds_start": 23648,
"cds_end": null,
"cds_length": 25392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004178.2"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 163,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23537C>G",
"hgvs_p": "p.Ser7846Trp",
"transcript": "XM_047444477.1",
"protein_id": "XP_047300433.1",
"transcript_support_level": null,
"aa_start": 7846,
"aa_end": null,
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"cds_start": 23537,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444477.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 164,
"exon_rank_end": null,
"exon_count": 179,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23648C>G",
"hgvs_p": "p.Ser7883Trp",
"transcript": "XM_005246599.3",
"protein_id": "XP_005246656.1",
"transcript_support_level": null,
"aa_start": 7883,
"aa_end": null,
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"cds_start": 23648,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246599.3"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 164,
"exon_rank_end": null,
"exon_count": 178,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23648C>G",
"hgvs_p": "p.Ser7883Trp",
"transcript": "XM_005246601.3",
"protein_id": "XP_005246658.1",
"transcript_support_level": null,
"aa_start": 7883,
"aa_end": null,
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"cds_start": 23648,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246601.3"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 164,
"exon_rank_end": null,
"exon_count": 178,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23648C>G",
"hgvs_p": "p.Ser7883Trp",
"transcript": "XM_005246602.3",
"protein_id": "XP_005246659.1",
"transcript_support_level": null,
"aa_start": 7883,
"aa_end": null,
"aa_length": 8401,
"cds_start": 23648,
"cds_end": null,
"cds_length": 25206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246602.3"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 164,
"exon_rank_end": null,
"exon_count": 178,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23648C>G",
"hgvs_p": "p.Ser7883Trp",
"transcript": "XM_047444478.1",
"protein_id": "XP_047300434.1",
"transcript_support_level": null,
"aa_start": 7883,
"aa_end": null,
"aa_length": 8401,
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{
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"verdict": "Uncertain_significance",
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{
"score": 2,
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Nemaline myopathy 2",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}