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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: 7-44220084-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44220084&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 44220084,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001220.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1979C>T",
"hgvs_p": "p.Ala660Val",
"transcript": "NM_001220.5",
"protein_id": "NP_001211.3",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 666,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395749.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1979C>T",
"hgvs_p": "p.Ala660Val",
"transcript": "ENST00000395749.7",
"protein_id": "ENSP00000379098.2",
"transcript_support_level": 1,
"aa_start": 660,
"aa_end": null,
"aa_length": 666,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001220.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395749.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1607C>T",
"hgvs_p": "p.Ala536Val",
"transcript": "ENST00000440254.6",
"protein_id": "ENSP00000397937.2",
"transcript_support_level": 1,
"aa_start": 536,
"aa_end": null,
"aa_length": 542,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440254.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1535C>T",
"hgvs_p": "p.Ala512Val",
"transcript": "ENST00000395747.6",
"protein_id": "ENSP00000379096.2",
"transcript_support_level": 1,
"aa_start": 512,
"aa_end": null,
"aa_length": 518,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395747.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1532C>T",
"hgvs_p": "p.Ala511Val",
"transcript": "ENST00000258682.10",
"protein_id": "ENSP00000258682.6",
"transcript_support_level": 1,
"aa_start": 511,
"aa_end": null,
"aa_length": 517,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258682.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1490C>T",
"hgvs_p": "p.Ala497Val",
"transcript": "ENST00000358707.7",
"protein_id": "ENSP00000351542.3",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 503,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358707.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Ala486Val",
"transcript": "ENST00000347193.8",
"protein_id": "ENSP00000326544.6",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 492,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347193.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1418C>T",
"hgvs_p": "p.Ala473Val",
"transcript": "ENST00000353625.8",
"protein_id": "ENSP00000326427.5",
"transcript_support_level": 1,
"aa_start": 473,
"aa_end": null,
"aa_length": 479,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353625.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1328C>T",
"hgvs_p": "p.Ala443Val",
"transcript": "ENST00000346990.8",
"protein_id": "ENSP00000326518.5",
"transcript_support_level": 1,
"aa_start": 443,
"aa_end": null,
"aa_length": 449,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346990.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.2120C>T",
"hgvs_p": "p.Ala707Val",
"transcript": "ENST00000943346.1",
"protein_id": "ENSP00000613405.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 713,
"cds_start": 2120,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943346.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.2108C>T",
"hgvs_p": "p.Ala703Val",
"transcript": "ENST00000943324.1",
"protein_id": "ENSP00000613383.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 709,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943324.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.2036C>T",
"hgvs_p": "p.Ala679Val",
"transcript": "ENST00000943323.1",
"protein_id": "ENSP00000613382.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 685,
"cds_start": 2036,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943323.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Ala678Val",
"transcript": "ENST00000896822.1",
"protein_id": "ENSP00000566881.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 684,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896822.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.2018C>T",
"hgvs_p": "p.Ala673Val",
"transcript": "ENST00000943353.1",
"protein_id": "ENSP00000613412.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 679,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943353.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.2003C>T",
"hgvs_p": "p.Ala668Val",
"transcript": "ENST00000896844.1",
"protein_id": "ENSP00000566903.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 674,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896844.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1994C>T",
"hgvs_p": "p.Ala665Val",
"transcript": "ENST00000943349.1",
"protein_id": "ENSP00000613408.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 671,
"cds_start": 1994,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943349.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1991C>T",
"hgvs_p": "p.Ala664Val",
"transcript": "ENST00000896845.1",
"protein_id": "ENSP00000566904.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 670,
"cds_start": 1991,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896845.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1982C>T",
"hgvs_p": "p.Ala661Val",
"transcript": "ENST00000943344.1",
"protein_id": "ENSP00000613403.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 667,
"cds_start": 1982,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943344.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1979C>T",
"hgvs_p": "p.Ala660Val",
"transcript": "ENST00000943316.1",
"protein_id": "ENSP00000613375.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 666,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943316.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1979C>T",
"hgvs_p": "p.Ala660Val",
"transcript": "ENST00000943333.1",
"protein_id": "ENSP00000613392.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 666,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943333.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1979C>T",
"hgvs_p": "p.Ala660Val",
"transcript": "ENST00000943345.1",
"protein_id": "ENSP00000613404.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 666,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943345.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "ENST00000896824.1",
"protein_id": "ENSP00000566883.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 660,
"cds_start": 1961,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
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"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}