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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: 1-239907572-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=239907572&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 239907572,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001375978.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "NM_001375978.1",
"protein_id": "NP_001362907.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 590,
"cds_start": 121,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 9179,
"mane_select": "ENST00000676153.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "ENST00000676153.1",
"protein_id": "ENSP00000502667.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 590,
"cds_start": 121,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 9179,
"mane_select": "NM_001375978.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "ENST00000255380.8",
"protein_id": "ENSP00000255380.4",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 590,
"cds_start": 121,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 8780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "NM_000740.4",
"protein_id": "NP_000731.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 590,
"cds_start": 121,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 8778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "NM_001347716.2",
"protein_id": "NP_001334645.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 590,
"cds_start": 121,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 9408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "NM_001375979.1",
"protein_id": "NP_001362908.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 590,
"cds_start": 121,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 9116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "NM_001375980.1",
"protein_id": "NP_001362909.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 590,
"cds_start": 121,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 9017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "NM_001375981.1",
"protein_id": "NP_001362910.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 590,
"cds_start": 121,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 9080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "NM_001375982.1",
"protein_id": "NP_001362911.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 590,
"cds_start": 121,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 9183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "NM_001375983.1",
"protein_id": "NP_001362912.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 590,
"cds_start": 121,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 9220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "NM_001375984.1",
"protein_id": "NP_001362913.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 590,
"cds_start": 121,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 9184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "NM_001375985.1",
"protein_id": "NP_001362914.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 590,
"cds_start": 121,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 9121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "ENST00000615928.5",
"protein_id": "ENSP00000482377.1",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 590,
"cds_start": 121,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 2433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "ENST00000675184.1",
"protein_id": "ENSP00000502349.1",
"transcript_support_level": null,
"aa_start": 41,
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"cds_start": 121,
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"cdna_start": 916,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "ENST00000676433.1",
"protein_id": "ENSP00000502013.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 590,
"cds_start": 121,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "ENST00000675709.1",
"protein_id": "ENSP00000502129.1",
"transcript_support_level": null,
"aa_start": 41,
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"cdna_start": 928,
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"mane_select": null,
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},
{
"aa_ref": "N",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "ENST00000448020.1",
"protein_id": "ENSP00000404764.1",
"transcript_support_level": 2,
"aa_start": 41,
"aa_end": null,
"aa_length": 108,
"cds_start": 121,
"cds_end": null,
"cds_length": 329,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "XM_011544043.3",
"protein_id": "XP_011542345.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 590,
"cds_start": 121,
"cds_end": null,
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"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 9512,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "XM_011544044.3",
"protein_id": "XP_011542346.1",
"transcript_support_level": null,
"aa_start": 41,
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"cds_start": 121,
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"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "XM_011544047.3",
"protein_id": "XP_011542349.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 590,
"cds_start": 121,
"cds_end": null,
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"cdna_start": 1174,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "XM_017000152.3",
"protein_id": "XP_016855641.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
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"cds_start": 121,
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"cdna_start": 4230,
"cdna_end": null,
"cdna_length": 12108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "XM_017000154.2",
"protein_id": "XP_016855643.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 590,
"cds_start": 121,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 14267,
"cdna_end": null,
"cdna_length": 22145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Asn41Asp",
"transcript": "XM_017000157.3",
"protein_id": "XP_016855646.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
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{
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}